Download regulating direct-to-consumer genetic testing

REGULATING DIRECT-TO-CONSUMER
GENETIC TESTING: PROTECTING THE
CONSUMER WITHOUT QUASHING
A MEDICAL REVOLUTION
Jennifer A. Gniady*
This Note examines the existing gaps in regulating genetic tests that are
sold directly to consumers and the arguments for and against greater
regulation. It advocates adopting an approach that shores up existing
regulation of the accuracy of genetic tests under the Food and Drug
Administration and Clinical Laboratory Improvement Amendment, while
continuing to promote an open market for selling tests directly to
consumers. The Note looks to a variety of additional mechanisms for
providing further consumer protections such as incentives for voluntary
participation in the Food and Drug Administration approval process, an
expanded watchdog role for professional organizations, and education
programs for consumers and physicians.
INTRODUCTION
Almost weekly, news reports announce that scientific studies have
connected specific genes to the development of diseases or health
conditions.1 Imagine that the next time you hear about such a study you
realize there is an easy way to find out if you have that particular gene.
There would be no need to visit a doctor’s office—simply perform a
noninvasive test at home and send it off to a laboratory. Within weeks of
sending away the sample, you receive the test results in the privacy of your
home. This scenario is no longer far-fetched, and it is raising questions
about the accuracy of such tests and their consequences for even the most
educated of consumers.
* J.D. Candidate, 2009, Fordham University School of Law. I would like to thank Dr. David
J. Goldberg. This Note also would not have been possible without the heroic support and
unwavering encouragement of my husband, Russell Stoll, and the inspiration of my son,
Timothy.
1. For example, a search of the LexisNexis database of “News, Most Recent 90 Days”
turned up 148 news articles in the first week of February 2008 that referenced a disease or
condition linked to a gene or identified by a genetic test. These articles variously described
links between a particular gene and a specific disease, an increased risk for particular health
conditions, or a propensity for certain medications to be more or less effective based on an
individual’s genome.
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One person who might be presumed to understand the dilemmas behind
this information is Dr. James D. Watson, the Nobel laureate scientist who,
along with Francis Crick, discovered the structure of DNA.2 In May 2007,
Watson received a complete copy of his genome at the Baylor College of
Medicine’s Human Genome Sequencing Center courtesy of a company
called 454 Life Sciences.3 Watson is making his genome publicly available
for researchers with one exception: the single gene linked to Alzheimer’s
disease will not be made public because he does not want to know if he is
predisposed to the disease.4
While Watson may be uniquely positioned to have access to high-quality
genetic testing and to understand the implications of this information, the
last decade has seen the development of direct-to-consumer genetic testing
that promises similar access to the public.5 In the past few years,
approximately two dozen companies have begun offering genetic tests
directly to consumers for a cost of anywhere from one hundred dollars to
nearly a thousand dollars.6
Some of these companies focus on diagnostic issues, such as letting
consumers find out if they carry the gene for certain kinds of breast cancer
or for diseases like Huntington’s or Alzheimer’s.7 Other companies
provide broader access to genetic information, including complete profiles
of an individual’s genome, which can be searched and compared on an
ongoing basis as new genetic links are discovered.8
On the surface, this might not seem much different from having any other
medical test done, such as going to the doctor to find out if one’s blood
pressure or cholesterol is higher than it should be. However, two
characteristics make these tests different from the medical tests that are
routine today. First, the tests can be obtained and administered by the
2. DNA, the acronym for deoxyribonucleic acid, is a molecule found primarily in the
nucleus of cells and used by living beings to convey the blueprint for building the materials
needed for the body to grow and function. The presence (or absence) of specific sequences
of the four nucleic acids that combine to create the double helix of the DNA molecule affect
the genetic material encoded for the living being, including physical traits as well as the
propensity for or resistance to specific diseases and conditions. James D. Watson & Francis
H.C. Crick, Genetical Implications of the Structure of Deoxyribonucleic Acid, 171 Nature
964 (1953) (publishing Watson and Crick’s original research on the process of genetic
inheritance implicated by the structure of the DNA molecule).
3. See Nicholas Wade, Genome of DNA Discoverer Is Deciphered, N.Y. Times, June 1,
2007, at A19.
4. Id.
5. See Andrew Pollack, The Wide, Wild World of Genetic Testing, N.Y. Times, Sept.
12, 2006, at G4 (describing the “rapidly expanding, chaotic and largely unregulated” field of
direct-to-consumer genetic testing).
6. Id.
7. See, e.g., Myriad Genetics, http://www.myriad.com (last visited Feb. 20, 2008)
(offering an analysis of a genome for the presence of the BRCA gene associated with breast
cancer, as well as genetic tests for hereditary melanoma and colorectal cancer).
8. See, e.g., 23andMe, http://www.23andme.com (last visited Feb. 20, 2008) (offering a
web-based service with interactive tools designed to assist consumers in understanding their
DNA).
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consumer with no need for a doctor to either give the test or analyze the
results.9 Second, the results received are generally not indicative of any
specific diagnosis or condition, but more prospective in predicting the
likelihood of a disease or condition occurring in that individual.10
In most scenarios, the results are even less useful than having a
cholesterol-level reading taken, where there are a variety of options for
treatment of dangerously high cholesterol levels, such as exercise, diet
changes, prescription medicine, or even surgical intervention when
necessary.11 Many of the conditions linked to the genes being tested for at
this time, such as Alzheimer’s or Huntington’s disease, are not curable and
offer limited options for treatment.12 Moreover, even for those conditions
that have limited treatment available, such as breast cancer, where a
combination of therapies are often successful in treating patients, there is
little that can be done in the period between discovering the existence of the
gene and the time when (if ever) the cancer associated with the gene
manifests itself.13
However, the lack of available treatments does not prevent some
consumers from taking serious steps based on the knowledge gained by
their genetic tests. Women who find they have a gene related to breast
cancer may opt for a preemptive strike against the disease by having an
elective double mastectomy rather than go through years or decades of
annual monitoring by mammograms to see if the cancer ever materializes.14
Parents preparing for the birth of a child routinely undergo basic genetic
9. See, e.g., id. (offering access to genetic tests that consumers can order directly from
the company without a physician’s order).
10. See Pollack, supra note 5 (“[S]ome tests ‘lack scientific validity and others provide
medical results that are meaningful only in the context of a full medical evaluation.’ Even
when the tests are valid, some genetics experts say, they are so complex that consumers need
a doctor or even a genetic counselor to help them interpret the results.” (quoting FTC, AtHome Genetic Tests: A Healthy Dose of Skepticism May Be the Best Prescription 1 (2006),
available at http://www.ftc.gov/bcp/edu/pubs/consumer/health/hea02.pdf)).
11. Nat’l Cholesterol Educ. Program, Third Report of the Expert Panel on Detection,
Evaluation, and Treatment of High Blood Cholesterol in Adults: What You Need to Know
(2002), http://www.nhlbi.nih.gov/health/public/heart/chol/wyntk.htm.
12. Researchers at Mayo Discover Cause of Defective DNA Repair, Law & Health
Wkly., Oct. 29, 2005, at 253, 253 (quoting Cynthia McMurray, Ph.D., Mayo Clinic
molecular biologist, as stating that “[h]ereditary neurodegenerative diseases such as
Huntington’s disease have no cure and no effective therapy”); Scientists Report First Blood
Test to Diagnose Alzheimer’s Disease, Law & Health Wkly., Nov. 3, 2007, at 179, 179
(stating that there is no cure for Alzheimer’s disease, which afflicts 4.5 million Americans).
13. Nat’l
Cancer
Inst.,
Breast
Cancer
Prevention,
http://www.cancer.gov/cancertopics/pdq/prevention/breast/patient (last visited Feb. 29,
2008) (noting that there are studies investigating cancer prevention based on lifestyle
changes and treating precancerous conditions, but that these steps “may lower your risk but
[do] not mean that you will not get cancer”).
14. See Barbara Isaacs, More Women Choose Preventive Mastectomy After Finding a
Genetic Link to Breast Cancer, Sacramento Bee, Nov. 12, 2006, at L6; Jessica Queller,
Cancer and Gene Testing: The Dark Knowledge That Can Save Lives, Int’l Herald Trib.,
Mar. 7, 2005, at 8 (describing a patient’s decision on whether to have a double mastectomy
after being diagnosed with a mutation in the BRCA gene).
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testing and often more extensive testing for genetic conditions that are
associated with their ethnic origins or are known to run in families.15 Based
on these results, the parents may choose not to conceive a child on their
own, to use donors for either egg or sperm to ensure the gene is not passed
on, or to terminate an existing pregnancy where there is a high likelihood of
the child being born with a genetic defect.16
Each of the decisions in the scenarios above involves the tremendous
burden of weighing unknown outcomes with choices about health, lifestyle,
and risk assessment. None of them is undertaken lightly, but it is a matter
of debate whether consumers, or even doctors, have a solid understanding
of what the probabilities mean in calculating genetic risks. Yet for a small
and growing segment of the consumer population, these choices may be
made on the basis of mail-order tests with results that are received directly
by the consumer via e-mail or a web site.17 Whether consumers can rely on
the results they receive or understand precisely what those results do (or do
not) mean is a question that has been overlooked as regulatory policy lags
behind the commercial genetic testing industry.18
Part I of this Note provides background on the rise of genetic testing as a
regular part of medical care and as a growing area of consumer awareness
driven by the health news media. Part I begins with an introduction to the
origins of genetic tests, including the unique challenges presented by their
regulation and the potential benefits that have prompted the rapid expansion
of this area of medical testing. Part I also addresses the regulatory
background against which genetic testing has been overseen during the past
two decades, specifically the interrelationship between the Food and Drug
Administration (FDA), Federal Trade Commission (FTC), and the Clinical
Laboratory Improvement Amendment (CLIA) of 1988 in promulgating
regulations that govern different aspects of genetic testing. Finally, Part I
examines the development of direct-to-consumer genetic tests, the issues
underlying consumer understanding of the test results, and the consumer
protection problems in judging the accuracy and validity of genetic tests.
Part II of this Note examines the conflict over what steps should be taken
to regulate genetic tests sold directly to consumers for at-home use. Part II
highlights the available options ranging from banning all consumer access
to direct genetic testing to allowing the industry to self-regulate. In
particular, it identifies the proponents of more regulation and less regulation
15. See Dena S. Davis, Genetic Dilemmas: Reproductive Technology, Parental Choices,
and Children’s Futures 9–15 (2001).
16. See id.
17. See Pollack, supra note 5.
18. See Lori B. Andrews, Future Perfect 116 (2001) (noting that misinformation may
result from negligent laboratory tests, doctors who lack knowledge about testing, or patients
who have “erroneous impression[s]” about the significance of genetic testing results);
Michael J. Malinowski & Maureen A. O’Rourke, A False Start? The Impact of Federal
Policy on the Genotechnology Industry, 13 Yale J. on Reg. 163, 177–80 (1996) (identifying
a time lag in regulatory policy relative to the development of the commercial genetic
industry).
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on direct-to-consumer genetic tests along with their salient rationales for
supporting their positions. Part II also examines the possible effects of both
positions on consumer access to health information and how this ultimately
may influence consumer behavior.
Part III of this Note concludes that a middle ground is needed to strike
the appropriate level of regulation in direct-to-consumer genetic testing.
Part III proposes a level of regulation that extends some regulatory
standards under existing agencies while still allowing substantial consumer
freedom to choose direct-to-consumer genetic testing options. Part III
points to this moderate level of regulation as the best approach to provide
essential consumer protections without stifling the development of a
valuable market segment of medical testing, which offers significant
benefits to consumers. Additionally, it advocates for regulations that take
into account medical standards for providing diagnoses based on genetic
tests and suggests that there may be other ways to create incentives for
companies that market the tests to comply with consumer protection
measures and encourage them to facilitate consumer relationships with
medical or genetic counseling professionals as part of the at-home testing
process.
I. HISTORIC REGULATION OF GENETIC TESTING AND RECENT CHANGES IN
THE AVAILABILITY OF GENETIC TESTS DIRECTLY TO CONSUMERS
This part of the Note discusses the historic regulation of genetic testing
as it has developed over the past decades alongside more traditional medical
diagnostic tests. This part outlines the forms of genetic tests and the
traditional measurements used to gauge the accuracy and validity of such
tests. Finally, this part examines the growing trend of biotechnology
companies offering genetic testing directly to consumers and the obstacles
to providing an appropriate level of regulation over these consumer tests.
A. An Overview of Genetic Testing
Genetic testing developed by building on more than a century of basic
research that grew out of the early research conducted by Gregor Mendel in
the 1860s to determine how characteristics were passed from one generation
of pea plants to another.19 These remarkable results established the process
of genetic inheritance through a combination of dominant and recessive
traits and set out the basic concepts that underpin today’s understanding of
In the late 1950s, the normal human complement of
genetics.20
chromosomes was established by researchers, and in 1953, the double helix
19. See Thomas Goetz, 23AndMe Will Decode Your DNA for $1,000. Welcome to the
Age of Genomics, Wired, Nov. 17, 2007, at 258, 263.
20. Id.
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structure of DNA was put forward as the chemical basis for the heredity of
the genes controlling the traits observed.21
Over time, the discovery of DNA led to tests designed to identify the
presence of specific genes in the DNA of human chromosomes. Today,
these genetic tests can be done directly on a tissue sample obtained from an
individual, usually with minimally invasive techniques.22 Prenatal testing
was one of the first areas to use these techniques to test for the presence of
genes in an embryo or fetus using samples of either amniotic fluid or cells
extracted from the placenta.23 Both tests involve inserting a slender needle
into the uterus to aspirate and remove a small quantity of cells from the
fluid or placenta to be tested.24 Genetic tests on adults have also developed
alongside the prenatal tests for the purposes of predicting and diagnosing
genetic conditions. In contrast to prenatal tests, typical predictive and
diagnostic tests can be done by using far less invasive means to collect cell
samples from an individual by using a swab of cells from the inside of the
cheek or a pinprick of blood from the individual’s finger.25 This section
highlights some of the specific challenges presented by the unique nature of
genetic test results in light of the increased access to genetic testing for
consumers and the potential benefits provided by the tests.
1. Unique Challenges of Genetic Tests
Modern genetic tests were defined by the National Human Genome Task
Force on Genetic Testing established in 1995 as a joint program of the
National Institutes of Health and the Department of Energy.26 Its mission
was spelled out in the announcement of the task force’s formation, which
stated, “Upon completing its evaluation, the Task Force will draft a final
report containing policy options and recommendations for the clinical
delivery of safe and effective genetic tests.”27 In undertaking its research,
the task force defined genetic tests as
[t]he analysis of human DNA, RNA, chromosomes, proteins, and certain
metabolites in order to detect heritable disease-related genotypes,
21. Watson & Crick, supra note 2 (publishing the initial research of Watson and Crick,
which set out the double helix structure and heredity relationships of the DNA molecule).
For a firsthand account of the research and discovery process, see James D. Watson, The
Double Helix: A Personal Account of the Discovery of the Structure of DNA (1968).
22. Susan L. Crockin et al., Genetic Tests Are Testing the Law, Trial, Oct. 2006, at 44,
44 (describing the genetic test analysis of chromosomal mutations that indicate genetic
disorders based on samples taken from cheek swabs or blood cells).
23. Id.
24. Am. Coll. of Obstetricians & Gynecologists & Am. Coll. of Med. Genetics,
Preconception and Prenatal Carrier Screening for Cystic Fibrosis: Clinical and Laboratory
Guidelines 1–32 (2001) (describing the process for obtaining samples of amniotic fluid and
placenta for the genetic screening of fetuses for the genetic markers indicating the presence
of cystic fibrosis).
25. Crockin et al., supra note 22, at 44.
26. See Nat’l Insts. of Health, Task Force on Genetic Testing (1995),
http://www.genome.gov/10001808.
27. Id.
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mutations, phenotypes or karyotypes for clinical purposes. Such purposes
include predicting risk of disease, identifying carriers, and establishing
prenatal and clinical diagnosis or prognosis. Prenatal, newborn, and
carrier screening, as well as testing in high risk families, are included.28
However, in its report, the task force did not set out to create or recommend
policies for specific genetic tests, opting instead to create a framework for
monitoring the safety and effectiveness of the tests.29 Interestingly, the task
force also identified “Consumer Involvement in Policy Making” as one of
the overarching principles endorsed by the group.30 Specifically, the task
force stated, “Consumers should be involved in policy (but not necessarily
in technical) decisions regarding the adoption, introduction, and use of new,
predictive genetic tests.”31
In the final report, the task force highlighted three important points with
respect to the majority of genetic testing results. First, no interventions are
currently available to improve the outcome of most genetically linked
diseases, creating a “therapeutic gap” between testing and treatment.32
Second, negative test results—the absence of a gene linked to a disease or
condition—do not always rule out the possibility that an individual will
develop that disease or condition.33 False negative interpretations of such a
test may occur because not all mutations of a single gene have been
identified or because more than one gene contributes to the onset of the
disease or condition.34 And third, the positive presence of a gene detected
by a test is not a guarantee that the disease or condition will occur in the
individual at all.35
The task force stated that, even where the disease does develop, the
presence of the gene in testing does not indicate how severe its symptoms
will be or how responsive to treatment those symptoms will be.36 In
technical terms, the “[g]enotype cannot necessarily predict phenotype for
rare ‘single’ gene disorders.”37 One example where this is true is the lifethreatening nature of cystic fibrosis, which varies based on the severity of
the disease’s effect on the lungs and cannot be predicted in advance.38
28. Nat’l Insts. of Health, Promoting Safe and Effective Genetic Testing in the United
States:
Final Report of the Task Force on Genetic Testing 6 (1997),
http://www.genome.gov/10001733.
29. Id. at 7–8.
30. Id. at 15.
31. Id.
32. Id. at 1–3.
33. Id. at 2–3.
34. Id.
35. Id.
36. Id.
37. Edward R.B. McCabe & Linda L. McCabe, Genomic Medicine: A Future Flooded
with Risk Information, 8 Minn. J. L. Sci. & Tech. 429, 430 (2007).
38. Ada Hamosh & Mary Corey, Cystic Fibrosis Genotype-Phenotype Consortium,
Correlation Between Genotype and Phenotype in Patients with Cystic Fibrosis, 329 New
Eng. J. Med. 1308, 1311 (1993) (noting that the presence of the genotype for cystic fibrosis
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2. Expansion and Benefits of Modern Genetic Tests
Despite these potential drawbacks, the benefits of genetic testing are not
insubstantial. A positive result could allow an individual to make lifestyle
changes that would be beneficial in the event the disease develops.39
Positive results might also encourage closer monitoring and allow the
individual to share that information with family members who are likely to
have inherited the same susceptibility or to be carriers of the genetic
mutation.40 Negative test results provide peace of mind to some
individuals, particularly those with a family history of a specific genetic
disorder.41 Negative results also allow individuals to forego extensive
monitoring, as in the case of those predisposed to cancer, and may assist
them in purchasing health care and insurance at standard rates.42
Today, more than 1000 genetic tests are available as clinical tests and
hundreds more can be performed in a research laboratory setting.43 These
tests can be connected to approximately 200 different medical conditions.44
This number does not even include the anecdotal observations of genes
loosely linked to genetic traits that do not have any substantial impact on
health, such as genes for detecting bitter tastes or lactose intolerance.45
Despite their proliferation, the tests themselves are still not regulated by
any government requirements mandating standards of effectiveness or
safety.46 Although this lack of regulation has developed organically, as
discussed below, it is not likely to continue for long in light of growing
public and business interest in developing more genetic tests.
B. Regulatory Oversight of Genetic Testing
Regulation of laboratory tests evolved out of the Food, Drug, and
Cosmetic Act, which has been enforced primarily by the FDA.47 The CLIA
extended some additional regulation over testing processes.48 However,
neither of these regulatory mechanisms anticipated the advent of genetic
testing or its availability directly to consumers outside of the traditional
health care system. As a result, direct-to-consumer tests, along with most
other genetic testing, falls into a gap in the regulatory structure that governs
is not indicative of the phenotype of the disease in a way that would allow for predicting
whether the effects of the disease will be severe or mild in the given individual).
39. See Nat’l Insts. of Health, supra note 28, at 2–3.
40. See id.
41. See id.
42. See id.
43. See Denise Caruso, Genetic Tests Offer Promise, but Raise Questions, Too, N.Y.
Times, Feb. 18, 2007, at C5.
44. Malinowski & O’Rourke, supra note 18, at 173.
45. See Amy Harmon, My Genome, Myself: Seeking Clues in DNA, N.Y. Times, Nov.
17, 2007, at A1.
46. See Caruso, supra note 43.
47. 21 U.S.C. §§ 301, 355(d), 360k(a) (2000).
48. 42 C.F.R. § 493 (2007).
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medical procedures and treatments.49 This section outlines the existing
framework for regulating medical and laboratory testing through federal
statutes and agencies. In particular, the section considers the aspects of
genetic tests that are regulated under this framework, as well as those
testing areas left unregulated.
1. Food, Drug, and Cosmetic Act
The majority of drugs and medical devices are regulated under the Food,
Drug, and Cosmetic Act.50 First passed in 1906, the initial law grew out of
the government’s interest in banning adulterated drugs and mediating
debates about natural foods.51 When it was initially passed, the law’s focus
was on protecting the consumer from harm and deceitful marketing
practices.52 The assumption of the law was that “the average man was
prudent enough to plot his own course and would avoid risks if labeling
made him aware of them.”53
Today’s Food, Drug, and Cosmetic Act is based on the subsequent law
passed in 1938, which included many provisions added to the original 1906
Act. This statute mandates that all new drugs be proved safe before
marketing, makes therapeutic devices and cosmetics subject to regulation,
and establishes standards of identity and quality that are required for
foods.54
As a federal regulation, the Food, Drug, and Cosmetic Act enjoys
precedence over existing state laws under the doctrine of federal preemption
established through the Supremacy Clause of the U.S. Constitution.55
Although the statute does not contain an explicit statement of federal
preemption, implied preemption exists where claims against approved
products are brought in state courts, a position generally considered
favorable to the product manufacturers who submit their products for FDA
approval.56
49. See Francis Fukuyama, Our Posthuman Future: Consequences of the Biotechnology
Revolution 203 (2003).
50. 21 U.S.C. § 360k.
51. See James Harvey Young, FDA, The Long Struggle for the 1906 Law, FDA
Consumer, Jan. 1981, http://www.cfsan.fda.gov/~lrd/history2.html.
52. See id.
53. See id.
54. FDA, A Guide to Resources on the History of the Food and Drug Administration
(2002), http://www.fda.gov/oc/history/resourceguide/background.html.
55. U.S. Const. art. VI, cl. 2 (“This Constitution, and the Laws of the United States
which shall be made in Pursuance thereof . . . shall be the supreme law of the land . . . .”).
See generally Viet D. Dinh, Reassessing the Law of Preemption, 88 Geo. L.J. 2085 (2000);
Betsy J. Grey, The New Federalism Jurisprudence and National Tort Reform, 59 Wash. &
Lee L. Rev. 475, 503–10 (2002).
56. See Geier v. Am. Honda Motor Co., 529 U.S. 861, 867–68 (2000) (finding that the
existence of an express provision is not exclusive in determining the scope of preemption
and finding the implied preemption of claims based on the failure to include driver’s side air
bags).
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Based on this statute, the FDA has a clear mandate to provide regulatory
oversight for the marketing and use of drugs and devices for medical
treatment to protect both the consumer’s health and financial interests.57
Devices are defined to include any “instrument, apparatus, implement,
machine, contrivance, implant, in vitro reagent, or other similar or related
article . . . intended for use in the diagnosis of disease or other conditions,
or in the cure, mitigation, treatment, or prevention of disease.”58 The range
of devices regulated covers everything from artificial hearts to at-home
pregnancy tests.59
However, under the Act, regulation of human biotechnology has lagged
behind other areas, such as agricultural biotechnology, despite the fact that
the existing regulatory system remains applicable to newly developing
biotechnologies.60 As a result, genetic tests lack the level of regulation
consumers might normally expect from other drugs and devices they
encounter on the market.
2. Food and Drug Administration Regulations
Currently, the FDA regulates the production of reagents and test kits
manufactured and sold for others to use to perform testing.61 Thus, FDA
regulation of genetic tests turns on whether a laboratory is using its own
reagents and protocols, also known as using home brew tests, or whether
the test uses a “kit” that is manufactured and sold to clinics or laboratories
that perform the test.62
Genetic tests performed using a kit are regulated by the FDA as “in vitro
diagnostic devices” (IVDs).63 Common IVDs are tests used to diagnose the
presence of HIV in an individual or to detect pregnancy.64 Kit tests subject
to FDA review make up only about one percent of the more than 1100
genetic tests commercially available today.65
As a result of the division in testing classifications, manufacturers and
private laboratories have so far been able to avoid the routine FDA review
process for diagnostic tests and compliance with applicable federal
57. 21 U.S.C. §§ 355, 360k (2000).
58. Id. § 321(h)(2).
59. See Ctr. for Devices & Radiological Health Consumer Info., What Is a Medical
Device or Radiation Emitting Product?, http://www.fda.gov/cdrh/consumer/product.html#1
(last visited Feb. 20, 2008).
60. 21 U.S.C. § 321.
61. See Medical Device Amendments (MDA) of 1976, 21 U.S.C. § 360k (2000).
62. See Genetics & Pub. Policy Ctr., Who Regulates Genetic Tests? 2 (2006),
http://www.dnapolicy.org/policy.issue.php?action=detail&issuebrief_id=10; infra notes 83–
88 and accompanying text.
63. See id.
64. See id.
65. See id.
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regulations. They do this by manufacturing and using their own reagents
in-house and selling these home brew testing services.66
The FDA, in response to the actions taken by biotechnology companies,
such as IVF, Myriad, and OncorMed, offering direct-to-consumer tests, has
proposed regulations to bring genetic testing services more directly within
its purview.67 This represents an expansion of its historical stance limiting
regulation largely to holding suppliers of active ingredients to good
manufacturing standards, which require FDA reporting of all adverse events
possibly attributable to products.68
As part of the effort to extend its ability to regulate genetic tests, the
FDA’s Center for Devices and Radiological Health held a public meeting
on February 8, 2007, to discuss guidelines to regulate a type of test, called
in-vitro diagnostic multivariate index assays, for both safety and
effectiveness.69 These tests measure multiple genes or proteins taken from
a patient and then analyze the information using an algorithm or software
program.70 In singling out these tests for further regulation, the agency
officials focused on the fact that such algorithms are proprietary and can
make it more difficult for doctors to evaluate and interpret the results of the
genetic analysis.71
However, the meeting was far from a clear-cut victory for the agency,
with representatives from many test manufacturers in attendance to
denounce the draft guidelines circulated by the FDA.72 Most complained
that the proposed guidelines were confusing, and several also held the
position that the agency lacked legal authority to regulate the tests under the
“devices” arm of the agency.73
3. Clinical Laboratory Improvement Amendment of 1988 Regulations
Regulation of laboratory tests is also provided by the CLIA.74 The CLIA
governs all laboratories that perform tests designed to provide information
about a person’s health.75 These regulations, set down by the Centers for
66. See Medical Devices; Classification/Reclassification; Restricted Devices; Analyte
Specific Reagents, 61 Fed. Reg. 10,484 (proposed Mar. 14, 1996) (codified at 21 C.F.R. pts.
809, 864) (“FDA currently regulates the safety and effectiveness of diagnostic tests that are
traditionally manufactured and commercially marketed as finished products. However, inhouse developed tests have not been actively regulated by the Agency and the ingredients
used in them generally are not produced under FDA assured manufacturing quality
control.”); see also infra notes 84–86 and accompanying text.
67. See Caruso, supra note 43.
68. Andrew Pollack, F.D.A. Seeks to Regulate New Types of Diagnostic Tests, N.Y.
Times, Sept. 6, 2006, at C4.
69. See FDA, Public Meeting: In Vitro Diagnostic Multivariate Index Assays 3–11
(2007).
70. See Pollack, supra note 68.
71. Id.
72. See Caruso, supra note 43.
73. See id.
74. 42 C.F.R. § 493 (2007).
75. Genetics & Pub. Policy Ctr., supra note 62.
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Disease Control under the Department of Health and Human Services,
govern protocols and reagents used in genetic tests by laboratories
providing clinical testing services.76 The regulations also extend to
qualifications for laboratory personnel and quality control procedures.77
These regulatory requirements vary depending on the tests performed, with
increasingly strict requirements correlating to the complexity of the tests
being analyzed.78 While the CLIA regulates the laboratory components of
some genetic tests, it does not address any regulations specifically to
genetic testing as a separate specialty.79 The result is that under the CLIA
there is no requirement for genetic tests to meet specific standards for
accuracy, reliability, or clinical validity.80
C. Genetic Testing Moves from the Laboratory to the Home
The combination of regulations by the FDA and CLIA may have
appeared sufficient while genetic testing was still in its infancy. This is
particularly true in light of the FDA’s traditional reliance on the medical
profession both to review new products and to set the standard of care in
cases of liability where genetic tests inevitably led to the growth of related
genetic malpractice suits.81 However, this patchwork of regulations and
industry pressure may no longer provide enough coverage to address
concerns about direct-to-consumer genetic tests adequately.82 This section
provides background on the classification of genetic tests and the methods
of measuring the reliability of their results, as well as the consumerprotection concerns raised by the growth of the direct-to-consumer genetic
testing market.
76. See id.; see also Laura Sternesky, Oversight of Genetic Testing, Genetics Brief, Jan.
2002, available at http://www.ncsl.org/programs/health/genetics/Oversight.pdf.
77. See Genetics & Pub. Policy Ctr., supra note 62.
78. See id.
79. See id. (noting that the Clinical Laboratory Improvement Amendment (CLIA) of
1988 maintains specific requirements for cytology and microbiology laboratories). The
Department of Health and Human Services has proposed to recognize genetic testing as a
specialty, but no regulations have been implemented. See Notice of Intent; Genetic Testing
Under the Clinical Laboratory Improvement Amendments, 65 Fed. Reg. 25,928-02 (May 4,
2000).
80. See Genetics & Pub. Policy Ctr., supra note 62.
81. See, e.g., Elaine A. Lisko, Genetic Malpractice Claims Raise Legal and Ethical
Issues,
Health
L.
Persp.,
Nov.
23,
1998,
http://www.law.uh.edu/healthlaw/perspectives/Genetics/981123Malpractice.html; Claudia
MacLachlan, Spine-Tingling Dispute: Bone Screw Suit Places FDA in 4-Way Squeeze, Nat’l
L.J., Jan. 8, 1996, at A1 (describing In re Orthopedic Bone Screw Products Liability
Litigation, 79 F.3d 46 (7th Cir. 1996), where plaintiffs in a product liability case alleged that
the FDA approved the defective device because it relied in part on medical reports from
doctors who stood to profit from the device).
82. See Pollack, supra note 5 (describing criticism of the reliability of genetic tests and
inquiries by Congress into the regulation of the tests).
2008]
REGULATING GENETIC TESTING
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1. Types of Genetic Testing Available
Genetic testing can take several different forms. With respect to the
regulation of genetic tests, or any laboratory tests, the regulatory agencies
divide the tests into two types.83 The first type includes those tests that are
done in a laboratory using the laboratory’s own reagents and protocols for
examining the genetic makeup of a sample.84 These are generally referred
to as “home brew” tests.85 This type is subject to very limited regulation,
such as the quality of the reagents used in the test, as well as any CLIA
regulations associated with the laboratory itself.86 The second type of test
is a “kit” test, which involves a manufacturer supplying a prepackaged test
that can be performed outside of the laboratory by a physician or other
health professional.87 Due to the manufactured nature of kit tests, the FDA
is able to exercise greater authority over these tests. However, kit tests
remain an extreme minority among all genetic tests available today.88
Regardless of the format of the genetic tests and the method of their
manufacture and use, these tests can also be classified by the type of results
they provide to individuals. As a result, the available genetic tests fall into
general categories described as predictive, diagnostic, and prenatal, each of
which may be carried out as part of regular patient testing or prenatal
testing.89 Currently, the primary focus of at-home tests is on nonprenatal
predictive and diagnostic tests, which can usually be done using minimally
invasive procedures, such as a cheek swab or pinprick blood test.90
Predictive testing determines the “probability that a healthy individual
with or without a family history of a certain disease might develop that
disease.”91 In contrast, tests used for diagnostic purposes will most likely
be conducted as part of a clinical evaluation to diagnose a specific disease
that has already manifested itself.92 While the diagnostic tests may or may
83. Genetics & Pub. Policy Ctr., supra note 62.
84. Id.
85. Nat’l Insts. of Health, Sec’y’s Comm. on Genetic Testing, Enhancing the Oversight
of Genetic Tests: Recommendations of the SACGT 10 (2000); see also supra text
accompanying note 66.
86. See supra Part I.B.3.
87. Genetics & Pub. Policy Ctr., supra note 62; see also supra text accompanying notes
63–65.
88. Genetics & Pub. Policy Ctr., supra note 62 (stating that of more than 900 genetic
tests only a dozen fall under the FDA review for test kits).
89. Pilar N. Ossorio, Product Liability for Predictive Genetic Tests, 41 Jurimetrics J.
239, 242 (2001) (describing three categories of genetic tests: predictive, diagnostic, and
prenatal);
see
also
Univ.
Hosp.,
Ethics
of
Genetic
Testing,
http://www.theuniversityhospital.com/adultgenetics/ethics.htm (last visited Feb. 14, 2008).
90. See Crockin et al., supra note 22.
91. Notice of Meeting and Request for Public Comments on Preliminary Final
Recommendations on Oversight of Genetic Testing, 65 Fed. Reg. 21,094, 21,096–97 (Apr.
19, 2000). By definition, this category would appear to cover not just isolated tests for
specific gene mutations, but also the results of complete genotypes being marketed to
consumers.
92. Id.
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not be subject to greater regulation depending on whether the test is a kit or
home brew type as discussed previously, these tests are at least more likely
to involve a physician or genetic counselor in the course of administering
and interpreting the results of the test.93
The third type of testing, prenatal testing, has probably received even
more attention than the other types of testing. At this time, however, the
majority of prenatal testing remains substantially more invasive than
nonprenatal predictive and diagnostic tests.94 Prenatal tests are not entirely
excluded from this Note’s general discussion, though, since some
companies have begun making inroads into prenatal testing by relying on
trace fetal cellular material present in the maternal blood supply.95 The
discovery of the limited reliability of these results makes for an illustrative
example of the stakes involved in the test results.96 However, since these
tests are less common at this time, they remain largely outside the scope of
this Note.
2. Common Measurements of Valid Genetic Tests
With regard to direct-to-consumer or at-home tests, there is no uniform
system in place to evaluate the tests before they are offered to consumers.97
Like their laboratory-based counterparts, though, they require at least two
basic measurements to determine the validity of the tests.98
The first measurement is the analytical validity, which evaluates how
consistently the test successfully predicts the presence or absence of a
specific gene or gene mutation.99 In genetic testing, an analytically valid
test would be positive when the particular gene mutation is present (based
on the test’s analytical sensitivity, or the limit of a substance that can be
detected by an assay) and negative when the gene mutation is absent (based
on the test’s analytical specificity, or freedom from other substances
interfering with detection of the target of the test).100 In other words, the
analytical validity indicates the probability that the test’s positive or
negative result will correlate with the gene sequence being targeted by the
test.101 Although a determination of analytical validity must be made
93. See supra notes 83–88 and accompanying text.
94. See supra Part I.A (concerning methods of obtaining cell samples for DNA
analysis).
95. See Consumer Genetics—The Pink or Blue Company, Am I Having a Boy or a Girl? The
Science Behind Gender Testing…, http://www.tellmepinkorblue.com/science_behind_it.php (last
visited Feb. 18, 2008).
96. See,
e.g.,
Baby
Gender
Investigation
Home
Page,
http://www.babygenderinvestigation.com/ (last visited Feb. 18, 2008) (describing a class
action lawsuit against Acu-Gen Biolabs for inaccurate gender determination results based on
maternal blood samples filed in Massachusetts).
97. See Genetics & Pub. Policy Ctr., supra note 62.
98. Id.
99. Id.
100. See Nat’l Insts. of Health, supra note 85, at 15.
101. Nat’l Insts. of Health, supra note 28, at 25.
2008]
REGULATING GENETIC TESTING
2443
before the test is offered in a clinical setting, the analytical validity standard
is based only on a comparison to the most definitive “gold standard” test on
the market.102 In cases where a test has not existed before, as in the case of
early genetic tests for specific types of cancer, the “gold standard” is merely
the first test, whether or not this test actually shows a high level of
analytical validity.103
The second measure, clinical validity, measures whether the test correctly
correlates with the presence, absence, or increased risk of a specific
disease.104 This validity measurement involves multiple factors, including
the correlation between positive or negative results and the presence or
absence of the predicted genetic disorder.105 Clinical validity also includes
the probability measurement for whether a person with the gene detected
will eventually develop the condition or disease linked to that gene.106
Newer genetic tests’ clinical validity will depend on the quality of the
clinical data on which it is based and the algorithms used to compute the
test result.107
3. Development and Marketing of Genetic Tests for Consumers
The need for consumer protections and additional regulation of genetic
tests marketed directly to consumers has become apparent over the last two
years as an influx of companies cater to the market for at-home genetic
testing.108 The problems cited however are not new. For example, more
than a decade ago there were concerns regarding earlier commercial genetic
tests, such as those for breast cancer and AIDS, due to the fact that health
care providers were largely dependent on commercial and academic
laboratories to provide them with an understanding of the results of genetic
tests.109 As such, it was suggested then that neither consumers nor their
health care providers were in a position to evaluate the genetic testing
technology.110
The sudden growth of direct-to-consumer genetic tests makes these
concerns prominent once more. The direct-to-consumer movement of
102. Id.
103. Id.
104. Id. at 26.
105. Id.
106. Id.
107. See Sec’y’s Advisory Comm. on Genetic Testing, Notice of Meeting, 65 Fed. Reg.
21,094, 21,102–03 (Dep’t of Health and Human Servs. Apr. 18, 2000) (announcing notice of
meeting and requesting public comments).
108. Andrew Pollack, A Genetic Test That Very Few Need, Marketed to the Masses, N.Y.
Times, Sept. 11, 2007, at C3.
109. Michael J. Malinowski & Robin J.R. Blatt, Commercialization of Genetic Testing
Services: The FDA, Market Forces, and Biological Tarot Cards, 71 Tul. L. Rev. 1211,
1245–46 (1997).
110. Id. (addressing prenatal multiplex testing and stating that, “until this informational
asymmetry between providers/patients and biotechnology companies is decreased through
the compilation of clinical data and education, heavy reliance upon market forces like
consumer and provider demand is misplaced”).
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genetic testing began with advertising genetic tests to consumers, in much
the same way prescription drugs are advertised in newspapers, magazines,
and television advertisements.111
While objections to such direct
advertising focus on the influence of intense marketing campaigns to
persuade consumers to purchase these tests without regard to their necessity
and effectiveness, these objections appear, at this time, to be unavailing
given the apparent success in deregulating drug advertisements in general,
as well as in light of commercial free speech trends.112
However, new concerns associated with the direct-to-consumer approach
have resurfaced in part because of the ease with which these new genetic
tests are performed and the results distributed. Each test costs from a few
hundred dollars up to several thousand dollars.113 In addition to testing for
the presence of specific genes, companies such as Consumer Genetics offer
evaluative tests such as paternity testing and tests that purport to tell
consumers how their genes affect responses to substances such as caffeine,
wine, or specific medications.114
Most of these tests allow consumers to use a cheek swab to collect the
sample cells needed for genetic testing and send the kit to the company for
analysis.115 Based on these samples, consumers can find out if they carry
the genetic markers for conditions such as cystic fibrosis, diabetes, blood
clotting disorders, breast cancer, or colon cancer.116 Three recent arrivals in
the market also plan to provide consumers with comprehensive genotypes,
essentially a complete and searchable record of the individual’s genome.117
The results are delivered directly to consumers via e-mail or by having
individuals log on to a web site.118 It is precisely this unmediated access to
potentially jarring health revelations that creates the most concern over
direct-to-consumer genetic tests.
D. Existing Issues in Regulating Direct-to-Consumer Genetic Testing
Many of the tests currently being made available directly to consumers
may be unproven or unnecessary according to testimony at a July 2006
111. See Pollack, supra note 108.
112. See infra Part I.D.2 (discussing commercial free speech limitations on FTC
regulation of advertising to prohibit false or misleading statements).
113. See id.
114. See, e.g., Consumer Genetics, http://www.consumergenetics.com/index.php (last
visited Feb. 18, 2008).
115. See, e.g., Consumer Genetics, Caffeine Test: How Does the Test Work?,
http://www.consumergenetics.com/ct_test_procedures.php (last visited Feb. 29, 2008).
116. See, e.g., DNA Direct, http://www.dnadirect.com/patients/tests/test_pricing.jsp (last
visited Feb. 18, 2008).
117. Harmon, supra note 45 (describing companies that have started to provide or are in
the planning stages of providing services to test consumers’ DNA, including 23andMe,
decode Genetics, and Navigenics).
118. See,
e.g.,
23andMe,
How
the
Process
Works,
https://www.23andme.com/ourservice/process/ (last visited Feb. 18, 2008) (describing the
consumer ability to log into a web site to receive and review the results of comprehensive
genetic profiling through a “personal genome account”).
2008]
REGULATING GENETIC TESTING
2445
Senate hearing on at-home DNA testing.119 The hearing was the result of
an earlier investigation by the Government Accountability Office into
direct-to-consumer genetic testing, which found that test kits purchased
over the Internet misled consumers by making unproven predictions about
health conditions and representing the information as diagnoses.120 The
majority of these tests involved claims by dietary supplement companies
that touted “personalized” nutrition recommendations based on an
individual’s genetic profile.121 Scientists at research universities have, in
fact, begun studying the relationship between genetics and diet, but the
results are far from conclusive at this point with the FDA and Centers for
Disease Control stating that there is an absence of scientific proof that such
tests can be used to make nutritional choices in a safe and effective way.122
Although the concerns regarding these tests encompass some of the broader
issues with direct-to-consumer testing, it should also be noted that such
customized genetic-based prescriptions are not that far-fetched. For
example, in the summer of 2007, the FDA approved the first genetic test
designed to target the correct drug dosage of a blood thinner for individual
patients.123 However, despite the possibility of such personalized genetic
profiles in the near future, current tests claiming to provide such
information to consumers present a risk of misleading consumers with
respect to the results obtained and their potential for valid medical uses.
This section identifies some of the issues faced by consumers in
determining the accuracy of and implications for the results of genetic tests
when the tests are not interpreted by health care professionals. The section
then looks at the limits of consumer protections applied to these tests and
explores analogies to earlier direct-to-consumer medical tests.
1. Accuracy and Consumer Understanding of Genetic Tests Results
In order for consumers to make an informed decision about using genetic
tests, there must be some assessment of the tests’ benefits and risks.124
Presumably, before a genetic test is created, there must be a scientifically
valid (i.e., peer-reviewed) study that links the genetic markers being tested
119. See Pollack, supra note 5 (describing the remarks of Senator Gordon H. Smith, who
compared the genetic tests to “modern-day snake oil”).
120. GAO, Nutrigenetic Testing: Tests Purchased from Four Web Sites Mislead
Consumers 7–19 (2006), available at http://www.gao.gov/new.items/d06977t.pdf.
121. Id.
122. For an in-depth discussion of the marketing of dietary advice based on genetic
profiles and the government investigations into companies specializing in this area, see
Laura Hercher, Diet Advice from DNA?, Scientific Am., Dec. 2007, at 84, 89. See also FTC,
At-Home Genetic Tests: A Healthy Dose of Skepticism May Be the Best Prescription
(2006), available at http://www.ftc.gov/bcp/edu/pubs/consumer/health/hea02.pdf; Am.
Soc’y of Human Genetics, Statement on Direct-to-Consumer Testing in the United States, 81
Am. J. Hum. Genetics 635, 635–37 (2007).
123. See Hercher, supra note 122, at 89.
124. Nat’l Insts. of Health, supra note 28, at 12.
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with the occurrence of a disease.125 The accuracy of the test itself is then
defined by two separate components.126 The first component is the validity
of the test.127 As discussed previously, the validity of the test is further
broken down into two parts based on its clinical validity and analytical
validity.128 The second component of a laboratory test’s accuracy is the
analysis and interpretation of the results generated by the test.129 This
section looks at both the validity and utility of genetic tests provided
directly to consumers, as well as the potential for errors in understanding
these tests where the role of professional genetic counselors is eliminated.
a. Difficulty of Ascertaining the Clinical Utility of Genetic Test Results
Assuming a test is considered valid under both the analytical and clinical
standards, there remain two aspects of accuracy in test results that relate to
the usefulness of the tests—the clinical utility of the test and the accurate
analysis of the test results. A test’s clinical utility will determine how
readily it will be accepted in clinical practice.130 Typically, the clinical
utility is thought of in terms of the benefits and risks associated with the
test.131 Unlike most tests, though, genetic tests are unique in that the risk in
having the test done is small but the tangible medical benefit may be
remote, such as where an individual receives test results indicating a
condition for which treatments and therapies have not yet been
developed.132 However, even during this “therapeutic gap” there are
thought to be benefits to testing that are related to monitoring opportunities,
providing information to family members, or providing peace of mind to
the individual.133 As with other medical tests, the clinical utility of genetic
tests is expected to increase as more information is gained about the
connection between genes, their disorders, and potential therapies.134
b. Problems in Assuring the Accurate Analysis of Genetic Test Results
Obtaining an accurate analysis of the results of genetic tests depends first
on the quality assurance in place where the DNA samples are analyzed.
Early commentators on the policy implications of widespread genetic
testing claimed that it is more difficult to maintain the quality of genetic
tests than other medical tests.135 Additionally, because most genetic testing
125. Id. at 23–25.
126. Id.
127. Id.
128. See supra Part I.C.2.
129. Nat’l Insts. of Health, supra note 28, at 28.
130. Id.
131. Id.
132. See Andrews, supra note 18, at 5–7.
133. Id. at 35–37.
134. Nat’l Insts. of Health, supra note 28, at 23–25.
135. See Inst. of Med., Assessing Genetic Risks: Implications for Health and Social
Policy 127 (Lori B. Andrews et al. eds., 1994).
2008]
REGULATING GENETIC TESTING
2447
results are negative, meaning nothing out of the ordinary is found, the
vigilance of laboratory personnel might be less than the level of scrutiny
normally exercised where test results vary more often between positive and
negative outcomes.136 Another concern about direct-to-consumer tests is
that the results no longer come from a local laboratory that is affiliated with
a network of physicians and health care professionals in the community.
Instead, the tests may be performed in specialized laboratories far from
where the sample is collected and analyzed as part of a high-volume
centralized business, thereby increasing the risk of mix-ups between
samples.137
One recent example of the impact that inaccurate test results may have
was brought to light when a test called BabyGenderMentor failed to deliver
on its promise to determine the sex of a fetus as early as five weeks into a
pregnancy.138 The test was supposed to measure genetic cellular material
from the mother’s blood to determine the gender of the fetus.139 As a result
of the test’s inaccuracy, a class action suit has been filed on behalf of more
than 100 consumers who received inaccurate test results.140 At this time, it
is unclear whether the source of the alleged errors was that the tests were
truly invalid or that the testing process was not closely monitored to ensure
the correct results were sent to consumers.141 However, while the public
complaints regarding the alleged mistakes are most often associated with
the surprise at having been told the expected child was the “wrong” gender,
other allegations have extended to include “advice” from the company that
the fetuses had chromosomal abnormalities.142 Unlike the comparatively
harmless error of having chosen incorrectly between pink and blue for a
nursery and clothing for a baby, a more serious concern is presented where
parents may choose to terminate a pregnancy based on gender or genetic
information that is inaccurate.
136. See id. at 117.
137. See id. at 133.
138. See Carey Goldberg, Gender Test’s Accuracy Is Questioned, Boston Globe, Oct. 17,
2005, at C1; Morning Edition: Critics Question Accuracy of Fetus Sex Test (NPR broadcast
Sept. 29, 2005), available at http://www.npr.org/templates/story/story.php?storyId=4867895.
139. Goldberg, supra note 138.
140. First Amended Complaint and Jury Demand, Blumer v. Acu-Gen Biolabs, Inc., No.
06 CA 10359 RCL (D. Mass. Mar. 27, 2006). Additional information about the lawsuit,
including class member complaints posted to describe their experiences and results with the
test,
is
available
at
Baby
Gender
Investigation
Home
Page,
http://www.babygenderinvestigation.com/ (last visited Feb. 29, 2008).
141. Goldberg, supra note 138 (noting that the technique used by the company to
determine the gender of the fetus was not published or reviewed but was based on research
that had been published in peer-reviewed scientific journals and offering other explanations
for the discrepancies).
142. See First Amended Complaint and Jury Demand, supra note 140, at 45–47.
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c. Errors in Interpretation and Comprehension of Test Results
Notwithstanding the potential for human error introduced into the tests,
the issue of physician and consumer understanding of the results goes even
deeper. Although many new genes and links to genetic disorders are
identified each month and can be isolated by clinical diagnostic tests,
physicians are often insufficiently prepared to interpret what the results
mean for patients.143 In a survey of accurate interpretations of genetic
diagnoses, out of nearly 2000 primary care physicians the average
respondent had a correct response rate of only seventy-four percent.144
Another study showed that one-third of physicians surveyed interpreted the
results of genetic testing for colorectal cancer erroneously.145 The issue has
continued to be such an ongoing concern that in 2004 the Secretary’s
Advisory Committee on Genetics, Health, and Society (SACGHS) drafted a
resolution on genetics training for health care professionals.146 Among the
issues cited by the committee were concerns that “insufficient education
and training in genetics and genomics has led, and may continue to lead, to
inaccurate or delayed disease diagnoses, misguided disease management,
inadequate family planning counseling, an exacerbation of health
disparities, and unnecessary costs.”147 The resolution proposed tasks that
included sweeping efforts ranging from education programs for students
spanning elementary to undergraduate levels, greater integration of genetics
professionals in the public health sector, and required continuing education
of health care professionals.148
Even when such genetic tests are accurately explained, there is evidence
that patient-consumers are unable to understand the explanations of the test
results and lack an understanding of both the risks of developing specific
diseases and the role that environmental factors play.149 For example, a
recent advertising campaign by Myriad Genetics urges women to consider
being tested for mutations in genes called BRCA1 and BRCA2.150 While
the campaign focuses on fears about breast cancer, critics question whether
143. Lori B. Andrews, A Conceptual Framework for Genetic Policy: Comparing the
Medical, Public Health, and Fundamental Rights Models, 79 Wash. U. L.Q. 221, 252–53
(2001) (describing the measures of physician error in interpreting genetic tests and detailing
one study in which one-third of physicians erroneously interpreted the results of a genetic
test for colon cancer).
144. Id. at 253.
145. Francis M. Giardiello et al., The Use and Interpretation of Commercial APC Gene
Testing for Familial Adenomatous Polyposis, 336 New Eng. J. Med. 823, 824–25 (1997).
146. Nat’l Insts. of Health, Resolution of the Secretary’s Advisory Committee on
Genetics, Health, and Society on Genetics Training and Education of Health Professionals
(2004),
available
at
http://www4.od.nih.gov/oba/SACGHS/reports/EducationResolutionJune04.pdf.
147. Id.
148. Id.
149. Bailey Kuklin, Probability Misestimates in Medical Care, 59 Ark. L. Rev. 527, 546
(2006) (describing how a patient’s misunderstanding of accurately explained genetic test
results in terms of probability affects tort liability under the doctrine of informed consent).
150. See Pollack, supra note 108.
2008]
REGULATING GENETIC TESTING
2449
the test’s cost—in excess of $3000—is justified when only five to ten
percent of all breast cancer cases are a result of mutations in these genes.151
The test has been described as “moderately accurate” but is recommended
only for those women in high-risk groups, such as those having a strong
family history of breast cancer.152 In fact, women in low-risk categories are
more likely to receive inaccurate test results.153
The Myriad test is primarily available through licensed physicians, and
consumers are urged to contact their doctors about it.154 This allows
doctors to screen out low-risk candidates as long as the doctors feel
comfortable refusing a patient’s request for the test.155 However, a similar
test is also available to consumers directly from DNA Direct that has no
gate-keeper physician barrier to prevent low-risk candidates from having
the test and receiving potentially erroneous results about their susceptibility
to breast cancer.156
d. Lack of Opportunities for Professional Genetic Counseling
with Direct-to-Consumer Genetic Test Results
As the previous example makes clear, the concerns about direct-toconsumer genetic testing may be correctly focused on the high-stakes
decisions people make based on the results of these tests. While patients in
a doctor’s office will likely receive some counseling regarding the results of
their tests, at-home tests may bring undesirable results directly to the
consumer in the absence of advice from anyone knowledgeable about the
meaning of the results or possible courses of action.157
At DNA Direct, a pretest consultation is required only for tests for the
breast cancer gene and infertility screening.158 While pretest consultation
for other tests is recommended, the site offers an “order now” option that
151. Id.
152. Michael Wilkes, Inside Medicine: Breast Cancer Test Isn’t for Everyone,
Sacramento Bee, Oct. 27, 2007, at K10 (objecting to Myriad’s advertising as “predatory”
and “misleading” and describing a woman with no family history or risk factors for breast
cancer who requested the BRCA tests).
153. Id.
154. See Pollack, supra note 108.
155. Id.
156. See Adam J. Wolfberg, Genes on the Web—Direct-to-Consumer Marketing of
Genetic Testing, 355 New Eng. J. Med. 543, 544 (2006) (noting that “[i]f you visited the
DNA Direct Web site in mid-July 2006 and indicated that you were interested in testing . . .
but reported no personal, family, or ethnic risk factors . . . the Web site would advise that
full-sequence BRCA testing was the most appropriate, at a cost of $3,456”); see, e.g., DNA
Direct, http://www.dnadirect.com (last visited Feb. 18, 2008) (providing a service where
consumers interested in genetic testing fill out an online form to select the tests to be
performed and requiring a pretest consultation with a genetic counselor, but not with a
physician, for breast and ovarian cancer tests).
157. Victoria Colliver, Home DNA Tests: When You Just Have to Know, S.F. Chron.,
Aug. 21, 2007, at C1.
158. See
DNADirect,
Order
a
Test,
http://www.dnadirect.com/patients/testing_services/ordering.jsp (last visited Feb. 18, 2008).
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FORDHAM LAW REVIEW
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foregoes pretest counseling.159 In addition, the results of all tests are
unmediated and returned to the consumer through the DNA Direct web
site.160 Although another telephone counseling session is available after the
results are reported, it is unclear how many consumers take advantage of
this opportunity.161 Other direct-to-consumer genetic testing companies
offer even more limited opportunities for consumers to have a genetics
professional assist with determining if the tests are necessary and
interpreting the results. At LabSafe, consumers visit a CLIA-certified
laboratory to have blood drawn and receive written test results.162
However, they are not referred by physicians for the tests and receive no
genetic counseling unless they are willing to pay seventy-five dollars for a
staff physician to provide a fifteen-minute consultation regarding the results
of the test.163
Geneticists and medical professionals maintain that even the limited
counseling available from the companies is insufficient since the company
providing the counseling has an interest in selling more tests.164 Medical
ethicists are also concerned about how consumers will act on the
information, as in cases where women seek abortions based on the gender
of an unborn child.165 Where the error rate for some at-home genetic tests
is high, the tests may also cause undue distress similar to that claimed in the
ongoing lawsuit against Acu-Gen Biolab for providing inaccurate results to
more than 100 women across the country regarding the gender of their
babies.166 These cases do not even begin to consider the extremes to which
individuals may go upon learning about their genetic makeup if that
information is not fully understood. A woman falsely diagnosed with a
high-risk of breast cancer may undertake extreme surgical steps—such as
undergoing a double mastectomy—under erroneous pretenses.167 Or an
individual given a diagnosis of Alzheimer’s or Huntington’s, who, as a
result, expects to have a shortened lifespan or limited ability to enjoy a
159. Id.
160. Id.
161. See Wolfberg, supra note 156, at 544.
162. LabSafe, Why Direct Lab Testing?, http://www.labsafe.com/why (last visited Feb.
18, 2008).
163. See Wolfberg, supra note 156, at 544; see also LabSafe, How the LabSafe Process
Works, http://www.labsafe.com/how (last visited Mar. 20, 2008). As of publication, this
web site had removed references to fees for additional genetic counseling and instead
suggests that consumers contact their doctors to discuss test results. Id. It was unclear
whether the additional fee-based counseling remained available to those who purchased tests
from the company.
164. Wolfberg, supra note 156, at 544.
165. Colliver, supra note 157.
166. First Amended Complaint and Jury Demand, supra note 140 (listing more than 100
plaintiffs in the class action suit complaint against Acu-Gen Biolabs, Inc.); Carey Goldberg
& Shelley Murphy, Lowell Firm Is Sued on Fetal Gender Test, Boston Globe, Mar. 1, 2006,
at B3 (describing the anxiety created by inaccurate test results).
167. This result is not unforeseen given that this step has been taken by those who have
received an accurate diagnosis of genetic predisposition toward breast cancer. See, e.g.,
Anne Underwood, When “Knowledge” Does Damage, Newsweek, Apr. 10, 2000, at 62, 62.
2008]
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particular quality of life in old age, may make lifestyle choices that are
riskier or more shortsighted than if the individual otherwise expected to
have a normal life span.168
2. Limits of Consumer Protection Under Existing Regulatory Bodies
Despite the existence of multiple assessment criteria and more than a few
concerns about the uses of direct-to-consumer genetic tests, no federal or
state entity regulates genetic tests offered directly to consumers.169 The
FDA appears to be the most logical place for regulatory oversight to rest,170
but the agency has shown hesitancy to regulate genetic testing generally
without a clear mandate that such consumer products fall under its
jurisdiction.171 Likewise, the CLIA remains limited to regulating the
laboratories where tests are performed, but exerts no authority over who
develops the tests or how they reach consumers in the health care system.172
As shown in the case of direct laboratory companies like LabSafe, even the
use of CLIA laboratories does not fully address consumer-oriented fears
that individuals will misunderstand the results of genetic tests or incorrectly
assign risks and benefits to the analyses they receive.173 Calls for greater
regulatory control over all genetic tests, not just direct-to-consumer
services, frequently identify the FDA and CLIA as joint forces to be united
to create a more stringent regulatory regime.174
In addition to the formal regulatory bodies for drugs, devices, and
laboratory tests, a number of specialized groups within the government
have been involved in advising on genetic testing over the past decades, and
although they do not have any direct regulatory authority, they have taken
positions on direct-to-consumer genetic tests. One of the earliest such
committees was the Secretary’s Advisory Committee on Genetic Testing
(SACGT), which was formed by the secretary of the Department of Health
and Human Services in June 1998. Its purpose was “to advise the
Department of Health and Human Services . . . on the medical, scientific,
ethical, legal, and social issues raised by the development and use of genetic
tests.”175 SACGT worked on establishing criteria that could be used to
168. See Andrews, supra note 18, at 36 (describing an individual with a fifty percent
chance of having the gene for Huntington’s disease who, prior to being diagnosed as not
having the gene, took up skydiving, assumed large amounts of debt, and terminated longterm relationships under the assumption that he would have an early death).
169. See Caruso, supra note 43.
170. See supra Part I.B.2.
171. See, e.g., Anny Huang, FDA Regulation of Genetic Testing: Institutional Reluctance
and Public Guardianship, 53 Food & Drug L.J. 555, 570–72 (1998) (detailing the history of
the FDA forays into regulation of testing and their general lack of positive experiences and
enthusiasm in regulating genetic tests).
172. See supra Part I.B.3.
173. See supra notes 162–63 and accompanying text.
174. See, e.g., Douglas A. Grimm, FDA, CLIA, or a “Reasonable Combination of Both”:
Toward Increased Regulatory Oversight of Genetic Testing, 41 U.S.F. L. Rev. 107 (2006).
175. See Nat’l Insts. of Health, supra note 85, at 1.
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assess genetic testing and identifying methods of monitoring genetic
testing.176
SACGHS has since replaced SACGT and is mandated to “advise the
Secretary of Health and Human Services . . . on policy issues raised by the
development and use of genetic technologies and their integration into
clinical and public health practice.”177 This new committee aims to
“address the broader implications resulting from the development and
application of genetic technologies.”178 In particular, the committee
examines the overarching issue of gaps in adequate oversight of genetic
testing programs that could harm the public’s health.179 The most recent
result of the committee’s work is a draft report on the current system of
oversight for genetic testing, which was open for public comments through
late December 2007.180 The draft marks the committee’s progress toward
“development of a comprehensive map of the steps needed” to oversee
genetic tests to improve the overall quality of health.181
The overarching recommendation of the committee in the November
2007 report was for “the [Health and Human Services] Secretary [to] take
steps to enhance interagency coordination of the activities associated with
the oversight of genetic testing, including policy and resource development,
education, regulation, and knowledge generation.”182 Though the report
and recommendations will not be finalized until sometime in 2008, the
majority of the recommendations address requiring increased regulation of
the validity of genetic tests through increased funding and cross-agency
relationships.183 The report also calls for a public-private partnership to
register genetic tests available to the public.184 The committee further
suggests that Health and Human Services should “step up its efforts” to
encourage collaborations between agencies, states, and consumer groups to
consider additional measures to protect consumers from potential harm
from direct-to-consumer genetic tests.185
Some additional regulation of these tests exists indirectly where
advertising of genetic tests falls under the FTC regulatory authority.186
However, the extent of the FTC’s regulatory authority extends only to
prohibiting false or misleading advertising, making it a limited avenue for
176. Id.
177. Sec’y’s Advisory Comm. on Genetics, Health, & Soc’y, U.S. System of Oversight of
Genetic Testing 2 (Draft Report, 2007) [hereinafter SACGHS Draft Report].
178. Suzanne M. Cox et al., International Genetic Testing, Genetics in Medicine, May–
June 2003, at 176, 176–78.
179. SACGHS Draft Report, supra note 177, at 2.
180. Id.
181. Id. at 12.
182. Id. at 17.
183. See id. at 17–20.
184. Id. at 19.
185. Id. at 23.
186. Nat’l
Genome
Research
Inst.,
Overview
of
Genetic
Testing,
http://www.genome.gov/10002335 (last visited Feb. 29, 2008).
2008]
REGULATING GENETIC TESTING
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accomplishing widespread protection of consumers.187 The FTC has played
a similar enforcement role supporting FDA regulations in other areas, such
as dietary supplements.188 In those cases, the FTC focused on dietary
supplements that made false claims or failed to carry the appropriate
disclaimer.189 The disclaimer required by the FDA for products making
claims that have not been cleared by the agency states, “This statement has
not been evaluated by the Food and Drug Administration. This product is
not intended to diagnose, treat, cure, or prevent any disease.”190 Products
that fail to comply with the disclaimer requirement may become targets of
FTC enforcement actions. By requiring the disclaimer for claims that have
not been cleared by the FDA approval process, the combined FDA and FTC
regulatory roles provide one mechanism for ensuring that consumers have
accurate information regarding claims made by product manufacturers who
choose not to undergo the FDA approval process for their products.
3. Similar Areas of Direct-to-Consumer Medical Testing
While direct-to-consumer genetic testing is unique in many respects, it is
hardly the first at-home test the regulatory agencies have had to confront.
During the 1970s, consumers and physicians saw the invention of at-home
pregnancy tests, which were largely endorsed by most physicians and paved
the way for educational campaigns on the importance of early prenatal
health care.191 Though not genetic tests but detectors of human chorionic
gonadotropin—a hormone produced in the bodies of pregnant women—
these tests were designed to meet all of the requirements of the FDA
Medical Devices Act.192
In contrast, during the late 1980s, the FDA banned similar home testing
kits for HIV, a decision that was widely criticized.193 However, the ban
187. See Gayle Javitt et al., Direct-to-Consumer Genetic Tests, Government Oversight,
and the First Amendment: What the Government Can (and Can’t) Do to Protect the
Public’s Health, 57 Okla. L. Rev. 251, 282–87 (2004) (describing First Amendment
commercial free speech limitations on FTC regulations that prohibit advertising that
deceives customers and discussing the lack of authority for the FTC to determine whether
there is some benefit to consumers from receiving certain information).
188. See Paula Kurtzweil, An FDA Guide to Dietary Supplements, FDA Consumer,
Sept.–Oct. 1998, http://www.fda.gov/FDAC/features/1998/598_guid.html (as revised in Jan.
1999).
189. Id.
190. Regulations on Statements Made for Dietary Supplements, 65 Fed. Reg. 1000–01
(Jan. 6, 2000) (to be codified at 21 C.F.R. pt. 101); see also 21 U.S.C. § 343; Food Labeling,
62 Fed. Reg. 49,826 (Sept. 23, 1997) (codified at 21 C.F.R. pt. 101); FDA, Food Labeling &
Nutrition—Dietary Supplements Label Claims:
Structure/Function Claims,
http://www.cfsan.fda.gov/~dms/labstruc.html (last visited Feb. 14, 2008).
191. Office of NIH History, A Thin Blue Line: A History of the Pregnancy Test
Timeline, http://history.nih.gov/exhibits/thinblueline/timeline.html (last visited Feb. 18,
2008).
192. Id.
193. See Warren E. Leary, Government Panel Hears Call for Expanded AIDS Testing,
N.Y. Times, June 23, 1994, at A18; Judy Mann, In the Privacy of Your Own Home, Wash.
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was supported by AIDS advocates who feared that tests sold directly to
consumers would create the potential for “widespread suicides, panic and a
rush to public health clinics” by consumers who discovered they were HIVpositive.194 As a result, the FDA delayed approval of the at-home tests for
nearly nine years, reversing its ban in 1995 and approving the first test the
following year.195 Subsequent test kits were permitted by federal drug
officials with the caveat that they include counseling and professional
support.196 In 2005, the FDA announced it would consider a new rapid athome AIDS test, and in 2006, the test entered studies in order to obtain
FDA approval.197
Despite these breakthroughs in at-home testing, in the mid-1990s the
FDA also attempted to adopt a similar ban on home drug-testing kits and as
a result drew attacks for attempting to limit consumer access to
information.198 One commentator summed up the problem of FDA bans on
direct-to-consumer tests by saying, “While physicians, scientists, consumer
advocates and other thoughtful individuals repeatedly declare that some
screening for validity should be undertaken, the general public may still
question attempts to limit their access to information, however uncertain the
information may be.”199
It is apparent from the preceding discussion that the existing regulations
are imperfectly applied to encompass the majority of genetic tests. In
particular, tests offered directly to consumers are largely unregulated. The
ability to regulate these tests is limited by the current scope of regulatory
authority available to create and enforce standards for these tests despite the
potentially life-altering information they provide. As a result, several
different schemes for regulating direct-to-consumer genetic tests have been
put forth by various interest groups. The various proposals are discussed
further in Part II of this Note with an emphasis on identifying those groups
supporting each proposal and the potential effects on both the producers and
consumers of direct-to-consumer genetic tests.
Post, Apr. 22, 1994, at E3; Elliott J. Millenson, AIDS Tests: Do It Yourself?: FDA’s NoHome-Testing Policy Is Endangering Everyone, Wash. Post, Aug. 27, 1989, at C5.
194. Gardiner Harris, F.D.A. to Weigh At-Home Testing for AIDS Virus, N.Y. Times, Oct.
13, 2005, at A1.
195. See Laurie Garrett, Panel Asks OK on Home AIDS Test, Newsday, June 23, 1994, at
A7; Press Release, Dep’t of Health & Human Servs., FDA Approves First HIV Home Test
System (May 16, 1996), available at http://www.hhs.gov/news/press/1996pres/960514.html
(“Until now, all HIV tests, whether using blood or saliva samples, were done under the
supervision of a health professional at medical facilities, clinics, physicians’ offices or blood
establishments. The new testing system is comprised of three integrated components: an
over-the-counter home blood collection kit, HIV-1 antibody testing at a certified lab, and a
test result center that provides test results, counseling and referral anonymously.”).
196. Harris, supra note 194.
197. Id.
198. See Daniel J. Murphy, FDA Ridiculed for Blocking At-Home Drug Testing, Investors
Bus. Daily, Oct. 1, 1994, at A4.
199. Huang, supra note 171, at 572 (citation omitted).
2008]
REGULATING GENETIC TESTING
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II. PROPOSALS FOR THE REGULATION OF
DIRECT-TO-CONSUMER GENETIC TESTS
Part II of this Note examines the conflict over what steps should be taken
to regulate genetic tests sold directly to consumers for at-home use. It
draws on congressional legislative efforts and hearing testimony on the
issue, statements by genetic test manufacturers, and comparisons of case
law relating to genetic malpractice (where doctors fail to use appropriate
tests or incorrectly analyze genetic test reports) and product liability cases
(where similar drug and diagnostic tools are involved). These sources
highlight the range of opinions on the matter—from banning all consumer
access to direct genetic testing to allowing the industry to self-regulate.
Part II also includes an evaluation of the proposed solutions with respect to
their ability to balance consumer protection with consumer access to
information.
A. Advocacy for Greater Regulation of Genetic Tests
Sold Directly to Consumers
Commentary on genetic testing within both the legal and health
professional communities appears to emphasize the need for greater
regulation of genetic tests.200 However, even among those who advocate
stricter standards of test quality and direct consumer access, there is no
clear agreement on what the parameters of such restrictions would look like.
This section examines greater regulation of direct-to-consumer genetic
tests, including the proponents of this view and the rationales of their
arguments. It also looks at the effect of greater regulation on both
consumers and the growing genetic testing industry.
1. Proponents of and Rationales Behind the Push for More Regulation
SACGT was among the first groups to propose prohibiting direct
consumer access to genetic tests; it recommended a prohibition on all
promotion or advertising of such tests directly to patients or consumers as a
way of eliminating potential risks in providing critical and easily
misunderstood health information in the absence of professional
guidance.201 Although this prohibition is not explicitly supported by the
newer SACGHS draft report, which declines to call for a complete ban on
the tests, the initial proposal retains some weight within the debate on
200. See generally Gail H. Javitt & Kathy Hudson, Federal Neglect: Regulation of
Genetic Testing, Issues Sci. & Tech., Spring 2006, at 59, 63–66, available at
http://www.dnapolicy.org/resources/Issues_in_Science_and_Technology.pdf; Michael J.
Malinowski, Separating Predictive Genetic Testing from Snake Oil: Regulation, Liabilities,
and Lost Opportunities, 41 Jurimetrics J. 23 (2000); Malinowski & O’Rourke, supra note
18, at 238–46.
201. Nat’l Insts. of Health, supra note 85, at 31–32 (recommending a ban on the
promotion and advertising of genetic tests to consumers, but acknowledging that an
alternative would be to permit promotion and advertising while continuing to enforce
regulations against false or deceptive claims).
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consumer access to genetic tests.202 In fact, the SACGT’s position was
later joined by the American Medical Association (AMA), which officially
discourages direct-to-consumer genetic tests based on the organization’s
fears that nonphysicians will begin encroaching on the practice of medicine
reserved for its constituent members.203 The AMA even recommends that
states ban direct consumer access to tests, as states such as New Jersey,
New York, and Rhode Island already have.204 As of June 2007, a study by
the Johns Hopkins University Genetics and Public Policy Center found that
thirteen states had statutes banning genetic tests from being sold directly to
consumers.205 Twelve additional states had imposed limitations on such
tests, some of which were minor restrictions while others essentially created
de facto bans on the tests.206
A ban on the tests could also be of interest to the insurance industry,
which has a vested interest in obtaining equal access to consumer health
information as a means of evaluating the risk and setting pricing for specific
health and life insurance policies.207 Consumers could have genetic tests
performed privately and then use the results to add or drop specific forms of
insurance linked to genetic conditions.208 The result feared is that
consumers without genetic risks will opt out of the insurance market.209
202. SACGHS Draft Report, supra note 177, at 137.
203. Direct-to-Consumer Genetic Testing, House of Delegates Resolution 502, A-04
(AMA, 2004); see also Diagnosis of Disease and Diagnostic Interpretation of Tests
Constituting Practice of Medicine to Be Performed by or Under the Supervision of Licensed
Physicians, House of Delegates Resolution 904, I-06 (AMA, 2006).
204. Jennifer Alsever et al., The Patient Knows Best, Business 2.0, Nov. 9, 2006,
http://money.cnn.com/magazines/business2/business2_archive/2006/10/01/8387104/index.htm.
205. Genetics & Pub. Policy Ctr., Johns Hopkins Univ., Survey of Direct-to-Consumer
Test
Statutes
and
Regulations
(2007),
available
at
http://www.dnapolicy.org/resources/DTCStateLawChart.pdf (presenting the results of a
nationwide survey of state law concerning access to direct-to-consumer genetic tests and
noting that thirteen states banned such tests outright while twelve additional states imposed
various restrictions on the availability of such tests to their residents); see, e.g., Ga. Code
Ann. § 31-22-4(a), (c) (2006); Mich. Comp. Laws § 333.17001(1)(f) (2001); Tenn. Code
Ann. § 68-29-121 (2006); Wyo. Stat. Ann. § 33-34-108 (2007).
206. Genetics & Pub. Policy Ctr., supra note 204 (citing a range of limitations, including
the requirement that companies notify consumers that they should contact their physicians
and the restrictions that only licensed physicians may order tests and/or obtain test results);
see, e.g., Ariz. Rev. Stat. Ann. §§ 36-470 to 36-479 (2006); Cal. Bus. & Prof. Code §§ 1241,
1246.5 (West 2003); Fla. Stat. Ann. § 483.181 (West 2006); 210 Ill. Comp. Stat. Ann. 25/7101 (West 2000); Md. Code Ann., Health-Gen. § 17-202.1 (LexisNexis 2004); Mass. Ann.
Laws ch. 111D, §§ 4, 8 (LexisNexis 2005); Nev. Rev. Stat. Ann. § 652.190 (LexisNexis
2004).
207. Colin S. Diver & Jane Maslow Cohen, Point/Counterpoint: Genophobia: What Is
Wrong with Genetic Discrimination?, 149 U. Pa. L. Rev. 1439, 1443–44 (2001) (describing
“genetic testing’s dark side” and identifying one example of genetic discrimination as the
use of certain genetic information by health insurance companies to assign insurance
applicants to appropriate risk classifications).
208. Do Not Ask or Do Not Answer?, Economist, Aug. 25, 2007, at 69, 69–71
(considering the possibility of a looming crisis in the insurance industry regarding personal
medical health information).
209. Diver & Cohen, supra note 207, at 1443–44.
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The insurance companies would then be forced to rely on consumers to
make good faith disclosures of information linked to genetic risks when the
companies issue new policies or custom policies. This concern of
companies represents the mirror image of consumer fears that insurance
companies will require genetic testing for the purposes of excluding them
from coverage for the very diseases or conditions to which they are most
susceptible.210 A ban on offering genetic tests directly to consumers would
go a long way toward preventing this risk from becoming widespread and
possibly even putting an end to the risk-based insurance industry itself.211
As a result, it would be a natural position for the insurance industry to
oppose direct-to-consumer genetic tests even as legislative efforts seek to
impose limits on the industry’s ability to incorporate genetic information in
a discriminatory manner.212
a. Regulating Genetic Tests in Line with Other Medical Diagnostic Tests
Advocates supporting greater regulation of genetic testing services
emphasize the differences between genetic tests and more traditional
diagnostic tools.213 Such differences are thought to include the lack of
valid tests, inadequate physician understanding and ability to communicate
the results of the tests, and consumer susceptibility to media hype about the
connections between genes and diseases or conditions.214 The result of
these combined factors is to encourage both overreliance by consumers on
negative test results and overtreatment for consumers who have positive test
results.215 There is also the possibility that those who have such tests may
open themselves up to discrimination based on their genetic characteristics
since the regulations governing health information privacy may be only
loosely observed by companies that do not have connections to the
traditional health care community.216
210. E.K. Clemons et al., Information Technology and Information Asymmetry: The
Future of Private Individual Health Insurance, 3 Sys. Sci. 240 (1997); Amy Harmon,
Insurance Fears Lead Many to Shun or Hide DNA Tests, N.Y. Times, Feb. 24, 2008, at A1
(describing patients who are concerned about losing their health insurance and who undergo
genetic testing but do not disclose their results, which indicate existing medical conditions,
even to their physicians).
211. Do Not Ask or Do Not Answer?, supra note 208.
212. See Diver & Cohen, supra note 207, at 1443–44.
213. See, e.g., Malinowski & Blatt, supra note 109, at 28.
214. Id. at 35–39.
215. These concerns originated more than a decade ago at the time of the initial breast
cancer genetic testing. See, e.g., David Plotkin, Good News and Bad News About Breast
Cancer, Atlantic Monthly, June 1996, at 53, 53–55 (speculating that a proliferation of
methods for testing for breast cancer may have caused overtreatment, such as unnecessary
mastectomies, while doing little to affect the disease’s mortality rate); Meredith Wadman,
Women Need Not Apply, Wash. Post, May 5, 1996, at C3 (“Scientists argue that testing in
non-research settings is fraught with peril. Negative test results, they say, could lull women
into a false sense of security, when in truth 90 to 95 percent of breast and ovarian cancers
aren’t inherited but occur spontaneously.”).
216. See Malinowski & Blatt, supra note 109, at 1284.
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b. Promoting Regulation of Genetic Tests for
Business Development Reasons
Advocates also see potential benefits to business interests in creating
additional regulation in the genetic testing market.217 Primarily, they claim
that the industry as a whole may be harmed by a few unscrupulous
companies whose actions damage the reputation of legitimate genetic
testing providers.218 “There is no way for a consumer to distinguish
between the dubious and the decent,” says Kathy Hudson, director of the
nonprofit Genetics and Public Policy Center in Washington, D.C.219
Regulatory recommendations by legislative and executive committees
tasked with studying the matter frequently call for mandatory oversight by
the FDA and encourage heightened scrutiny of product promotion in
advertisements by the FTC220 to provide incentives for the industry to offer
higher quality products and more accurate results.221 A related option is to
delegate some amount of regulation to professional associations, such as the
American College of Medical Genetics or the American Society of Human
Genetics.222 Independent organizations such as these are thought to provide
the benefit of being able to act more quickly based on input from
practitioners in the field of genetic testing, counseling, and treatment
without being subject to the forces of changing political administrations.223
c. Preserving Tort Liability Remedies by Regulating Genetic Tests
Finally, proponents of restrictions on direct-to-consumer tests point out
that the role of the physician or genetic practitioner may be an important
one in the overall policy of compensating for torts related to inaccurate test
results.224 For physicians and health care professionals in genetics, this
217. See Alsever et al., supra note 204.
218. See id.
219. Id.
220. See, e.g., FTC, supra note 122.
221. Robert Pear, Growth of Genetic Tests Concerns Federal Panel, N.Y. Times, Jan. 18,
2008, at A12.
222. See Grimm, supra note 174, at 128 (detailing the number of professional
organizations involved with genetic testing, including the Association of Public Health
Laboratories, the American College of Medical Genetics, the College of American
Pathologists, the National Committee on Clinical Laboratory Standards, the Commission on
Office Laboratory Accreditation, the American Society of Human Genetics, the National
Advisory Council for Human Genome Research, and the Working Group on Ethical, Legal,
and Social Implications of the Human Genome Project).
223. Id.
224. See Ossorio, supra note 89, at 258 (“The traditional rule for prescription medical
products is that the manufacturer discharges its duty to warn or instruct the ultimate user (the
patient) by supplying information to physicians. The justification for this ‘learned
intermediary rule’ is that prescribing physicians who are properly informed of the potential
harms, benefits, and side-effects will use their expert medical judgment to weigh these
factors and determine the best product for the patient. Because physicians were perceived as
the gatekeepers, they were seen as the appropriate target of warnings and instructions. Also,
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REGULATING GENETIC TESTING
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liability is incurred through the tort doctrine of the learned intermediary.225
Under direct-to-consumer sales of genetic tests, there are mixed opinions as
to whether the liability remains attached to the learned intermediary
doctrine or accrues to the manufacturer of the test.226
Historically, examples of liability are frequently found when a physician
fails to inform parents of genetic testing results and later a child is born
with a condition that could have been avoided if the parents had access to
the information from the test results obtained during a previous
pregnancy.227 The fact that the diagnosis of the first child is tied to an
inheritable trait creates novel issues that are not normally found in
diagnoses that are merely curable infections.228 Here, the medical
professional is thought to have not only the duty of beneficence, but also to
face ethical decisions regarding the information’s confidentiality and
potential for disclosure.229
For instance, in Didato v. Strehler, the defendants had a duty to convey
the results of the screening tests performed on the daughter of parents who
carried the gene for sickle cell anemia.230 Even though the parents were not
the patients, the court found that they pleaded sufficient facts to allow a
reasonable jury to find a duty to report the results to them, which would
have alerted the plaintiffs to the possibility that a subsequent child could
have the disease.231 The court found that the plaintiffs could survive
summary judgment even if they were unable to establish that the standard
of care required that a reasonably prudent pediatrician communicate certain
information to them.232
Without a physician ordering or analyzing the results of the genetic tests,
the plaintiffs in that case would likely have been left without a means of
they were seen as the appropriate person to convey this information to the patient
comprehensibly.”).
225. See id.
226. Perez v. Wyeth Labs., Inc., 734 A.2d 1245, 1257 (N.J. 1999) (“Prescription drug
manufacturers that market their products directly to consumers should be subject to claims
by consumers if their advertising fails to provide an adequate warning of the product’s
dangerous propensities.”). But see In re Norplant Contraceptive Prods. Liab. Litig., 165 F.3d
374, 378 (5th Cir. 1999) (holding that even if direct-to-consumer marketing could negate the
learned intermediary rule it cannot do so where there is no specific evidence that the
plaintiffs saw the manufacturer’s claims or acted in reliance on them).
227. Didato v. Strehler, 554 S.E.2d 42, 46–48 (Va. 2001).
228. Cf. Louis J. Elsas II, A Clinical Approach to Legal and Ethical Problems in Human
Genetics, 39 Emory L.J. 811, 818 (1990) (contrasting the diagnosis and treatment of
meningitis in a child as compared to that of sickle cell disease where the effects of sickle cell
are chronic for the patient and the genetic risks are shared by family members).
229. Id.
230. Didato, 554 S.E.2d at 48.
231. Id.
232. Id.; see also Park v. Chessin, 400 N.Y.S.2d 110, 111 (App. Div. 1977) (finding that
negligently performed genetic counseling can result in liability where a physician told
parents that the risk of a subsequent child being born with the same kidney disease as their
first child was “practically nil” even though the disorder was genetic). The court awarded
costs for care and treatment of the second child born with the disease under a wrongful life
suit brought by the parents when the second child died less than three years after birth. Id.
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compensation for the oversight of failing to convey the full meaning of the
genetic test results to them. Consumers who order the tests themselves may
not receive complete or accurate information and may not understand the
larger implications for their health or lifestyle based on those results.
Assuming a direct-to-consumer testing company provided an accurate, if
not easily understandable report, it is difficult to see how liability, and
therefore compensation, could be established.
2. Evaluation of Possible Effects of More Regulation on
Consumers and the Genetic Testing Market
The need to close the gap in regulation of genetic testing has reached
critical mass among those who work in the genetics field.233 If the FDA
and CLIA agencies were to work in concert, this likely would be an
improvement over the existing regulatory gap since “CLIA’s regulatory
tools are different than those available to the FDA, [so] some reasonable
combination of both might be used to address the concerns regarding
genetic testing.”234 This option would allow the agencies to draw on each
other’s strengths and focus solely on creating rules to cover the existing
gaps in regulatory coverage, as opposed to reinventing regulatory law for
direct-to-consumer genetic tests as a separate category.235 But some
commentators are doubtful that these existing regulatory bodies are capable
of adapting their historic missions to accommodate the current and future
advances in genetic testing.236
a. Existing Agencies Inadequate to Meet New Regulatory Challenges
Among the obstacles cited by commentators is that the existing agencies
will be reluctant to add to their regulatory scope and that any additional
oversight they assume will necessarily reduce their efficacy in the existing
regulatory duties.237 Additionally, the regulatory oversight of the past
turned in large part on the ability of the government to exert control over
research and development through the power of the purse strings.238 Today
that control is greatly reduced as funding by the National Institutes of
233. See Pollack, supra note 68 (“‘There’s been a gaping hole in the oversight of genetic
tests. . . . We have seen a tenfold increase in the number of genetic tests available over the
last decade and an even greater increase in the complexity of those tests.’” (quoting Dr.
Kathy Hudson of Johns Hopkins University)).
234. Karen Lusky, FDA Puts ASR Rule Back on the Table, CAP Today, Oct. 2003,
available at http://www.cap.org/ (follow “Reference Resources and Publications” hyperlink;
then follow “Periodicals; CAP Today” hyperlink; then follow “2003 Articles” hyperlink;
then follow “October” hyperlink).
235. See generally Grimm, supra note 174.
236. See Huang, supra note 171, at 580–81.
237. Fukuyama, supra note 49, at 213–14.
238. Id.
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Health or other federal government agencies, though still the largest source
of research funding, is being replaced in large part by private sources.239
The strength of the FDA reform movement further reduces the likelihood
that a comprehensive regulatory response to the commercialization of
genetic testing services will be introduced.240 Therefore, regulation of
genetic testing in biotechnology will be forced to follow precedents set by
pioneering companies in this field such as IVF, Myriad, and OncorMed.241
b. Assisting Consumers to Better Understand the Results of Genetic Tests
There is also much debate about how much responsibility the consumer
should have. Earlier opinions on the responsibility shared between
consumers and health professionals considered the possibility that
consumers largely preferred to have medical decisions dictated to them by
more knowledgeable experts.242 More recent commentators have taken a
more moderate position on shared responsibility for choosing genetic
testing and understanding its implications by focusing on a more
commonsense approach to physician-required advice.243 “Simply telling
patients something or giving them a handout is quite different from making
sure that they understand what they have been told.”244 The key function of
genetic professionals then becomes making sure “by whatever means are
needed and in whatever time is required, that patients are given medical
information that is clear and understandable, and that they understand it.”245
Not only is there a sense that consumers need to be protected from their
own ignorance, but there is also a belief among some professionals that
direct consumer-driven health care may ultimately “endanger the health and
well-being of the chronically ill (those most reliant on health coverage).”246
Others allege that an increase in direct consumer-marketed products will
further exacerbate health care costs at a time when health care expenses are
spiraling out of control.247 Another problem is that uninsured persons may
239. Id.
240. Id. at 214–15.
241. Malinowski & Blatt, supra note 109, at 1242.
242. Raisa B. Deber, Shared Decision Making in the Real World, 11 J. Gen. Internal Med.
377, 377 (1996) (stating that informed consent realists “have—in the dead of night—asked
whether patients wish to be involved in decision making at all”).
243. See, e.g., Marshall B. Kapp, Patient Autonomy in the Age of Consumer Driven
Health Care: Informed Consent and Informed Choice, 2 J. Health & Biomedical L. 1
(2006).
244. Id. at 15 (quoting Barry D. Weiss & Cathy Coyne, Communicating with Patients
Who Cannot Read, 337 New Eng. J. Med. 272, 273 (1997)).
245. Id.
246. John V. Jacobi, Consumer-Directed Health Care and the Chronically Ill, 38 U.
Mich. J.L. Reform 531, 533 (2005).
247. Margot Roosevelt, Health Insurance? Turn Left at Aisle 6, Time, July 25, 2005, at
14, 14 (stating that a fragmented free market for health care is less necessary than “a publicly
accountable and organized system of health insurance”). But see Stephen T. Parente et al.,
Evaluation of the Effect of a Consumer-Driven Health Plan on Medical Care Expenditures
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scrape together funds for a test but cannot afford health care to monitor or
cope with the resulting diagnosis.248 The outcome feared is that extensive
testing in an inadequate system of health care and insurance protections will
make individuals diagnosed with certain conditions virtual outcasts
deprived of a social safety net.249 Patients’ rights advocate George Annas
speaks to the issue by saying,
Consumer choice becomes the central mantra of the market metaphor. . . .
The market metaphor is also a myth . . . . The consumer-patient is not
always right . . . . The market metaphor . . . pretends that there is such a
thing as a free market in health insurance plans, and that purchasers can
and should be content with their choices when an unexpected injury or
illness strikes . . . .250
c. Protecting Consumers from Industry by Regulating Genetic Tests
In comparison to ordinary consumer disclosure laws, the physician’s duty
to disclose genetic information is necessary in order to allow a patient to
make an informed decision about medical care.251 This grows out of the
long-standing belief that patients are entitled to the information necessary to
make those decisions.252 However, there is no comparable right in ordinary
consumer affairs, which is why consumer disclosure laws are necessary to
protect the consumer population; such laws require companies to provide
product and service information to consumers who consent to the risks and
benefits associated with the goods or services being purchased.253
Proponents of legislation to give individuals more control over genetic
testing critique the existing legislation regulating genetic information for
being too limited in scope.254 Patients’ rights critiques focus on identifying
potential abuses of such tests and the belief that the negative effects of
and Utilization, 39 Health Serv. Res. 1189, 1203 (2004) (reporting that enrollees in a
consumer-driven health plan had lower total expenditures than other consumers).
248. See generally Malcolm Gladwell, The Moral-Hazard Myth: The Bad Idea Behind
Our Failed Health-Care System, New Yorker, Aug. 29, 2005, at 44, 44–49 (faulting
consumer-driven health care for giving insufficient attention to the role of health insurance
in redistributing resources).
249. See Wendy K. Mariner, Can Consumer-Choice Plans Satisfy Patients? Problems
with Theory and Practice in Health Insurance Contracts, 69 Brook. L. Rev. 485, 492–93
(2004) (discussing the problems of information imbalance and bargaining power in the
medical context of managed care programs).
250. George J. Annas, Some Choice: Law, Medicine, and the Market 46 (1998).
251. See Mariner, supra note 249, at 493.
252. See id.
253. See id.
254. See generally George J. Annas et al., Drafting of the Genetic Privacy Act: Science,
Policy, and Practical Considerations, 23 J.L. Med. & Ethics 360 (1995); Patricia (Winnie)
Roche et al., The Genetic Privacy Act: A Proposal for National Legislation, 37 Jurimetrics
J. 1 (1996).
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further legislation are overstated in light of the consumer protections
needed.255
Similarly, advocates for more direct regulation also argue that the
influence drug developers and manufacturers exercise over scientific
Many find that medical
research must not be underestimated.256
researchers are highly susceptible to the influence of the private
biotechnology industry and are further conflicted by the fact that many
researchers hold monetary interests in developing or promoting new
biotechnology products.257 Accordingly, they argue that the influence of
the industry over public health policy should not be assisted by a lax federal
regulatory approach.258 The approach these advocates urge is to increase
regulation of genetic tests sold directly to consumers in order to protect the
consumers and rein in potential abuses by the biotechnology industry in this
newly expanding area of health information.
B. Advocacy for Less Regulation and More Direct
Consumer Access to Genetic Testing
The majority of the genetic testing industry has called for self-regulation,
citing the detrimental effect increased regulation would have on a fledgling
business that benefits consumers.259 Increased regulation is also adamantly
opposed by a wider array of interest groups ranging from biotechnology
policy groups and research scientists to advocacy groups for specific
diseases.260 This section looks at those groups advocating less regulation of
direct-to-consumer genetic tests and supporting greater access to genetic
testing.
255. See, e.g., Annas, supra note 250, at 97–111. Two pieces of legislation have been
introduced in the Senate during the 110th Congress in an attempt to address the regulatory
gaps in genetic testing. See Genomics and Personalized Medicine Act of 2007, S. 976, 110th
Cong. (proposing the creation of an interagency working group, the development of a
national biobank for the collection of genomic data, and an increase in genetics and
genomics training); Laboratory Test Improvement Act, S. 736, 110th Cong. (2007) (deeming
laboratory tests to be devices for the purposes of regulation, requiring public disclosure
concerning the tests, and requiring reporting of direct-to-consumer genetic tests under 21
U.S.C. §360k).
256. Malinowski & Blatt, supra note 109, at 1284.
257. See David Blumenthal et al., Relationships Between Academic Institutions and
Industry in the Life Sciences—An Industry Survey, 334 New Eng. J. Med. 368, 368 (1996)
(“Ninety percent of companies conducting life-science research in the United States had
relationships involving the life sciences with an academic institution in 1994. Fifty-nine
percent supported research in such institutions, providing an estimated $1.5 billion, or
approximately 11.7 percent of all research-and-development funding received that year.”);
see also Steven A. Rosenberg, Sounding Board: Secrecy in Medical Research, 334 New
Eng. J. Med. 392, 392–93 (1996).
258. See Malinowski & Blatt, supra note 109, at 1285–86.
259. FDA, supra note 69, at 25–28, 44–45, 81–82 (expressing the concerns of industry
executives and investors that regulation apart from the existing industry processes would
inhibit the development of small biotechnology companies, delay and increase the costs of
genetic testing, and harm consumers in the long run).
260. Fukuyama, supra note 49, at 215 (pointing out the wide variety of interest groups
behind those who oppose additional limitations on genetic testing and information).
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1. Proponents of and Rationales Behind Advocating for Greater Freedom
of Access to Personal Genetic Information
During 2007, the FDA set out to begin the process of extending its
regulation to genetic tests by issuing guidelines for tests that measure
multiple gene variables identified as “multivariate index assays.”261 News
reports of the agency’s public meeting on the guidelines indicated that
many diagnostic test manufacturers were displeased with the proposed
regulation.262 Complaints rolled in that the guidance offered by the agency
was “confusing” and a “disincentive to innovation” along with suggestions
that the FDA was outside its legal authority to regulate genetic tests under
its approval process for devices.263
One industry executive, Sharon F. Terry, president of the Genetic
Alliance, said that the “guidelines should be withdrawn and formal rules
approved,” an action that would require several years for the agency to
accomplish.264 Presumably, pushing back the guidelines for such an
extended period of time would allow manufacturers a wide window during
which they could continue to offer their products under the Department of
Health and Human Services laboratory improvement guidelines.265 This
section examines the arguments for reduced regulation of direct-toconsumer genetic tests. It also looks at the effect a more laissez-faire
approach to the direct-to-consumer genetic test market would have on both
consumers and the growing genetic testing industry.
a. Creating Unnecessary Limits on the Development of Genetic Testing
Some experts noted that the proposed guideline requirements would
further discourage the development of new tests by raising the costs of
introducing them. “I’m not sure we could exist at all if we were required
upfront to have F.D.A. approval,” Randy Scott, chief executive of Genomic
Health, explained in response to the initial proposal and at the public
comments meeting.266
Advocates of regulatory restraint support the existing absence of specific
regulation for genetic tests and claim that industry abuses can be curbed by
other means, citing the industry’s current incentive to avoid product liability
as one effective means of policing potential abuses.267 They claim the
regulatory effect of legal liability should not be underestimated, citing the
risks associated with foregoing the FDA review process and subjecting a
261.
262.
263.
264.
265.
266.
267.
Caruso, supra note 43.
Id.
Id. (internal quotation marks omitted).
Id.
Pollack, supra note 68.
Id.
See Malinowski & Blatt, supra note 109, at 1279–83.
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company to greater product liability at the state level.268 The recommended
response to companies that prematurely market predictive genetic tests is to
encourage greater enforcement of existing regulations for product labeling
and laboratory standards instead of using the situation as an opportunity to
impose additional regulation.269 Likewise, it is argued that physicians who
fail to advise patients properly or who order excessive genetic tests should
be penalized under professional disciplinary standards or through
malpractice suits rather than have the federal government limit access to
genetic testing.270
b. Using Product Liability to Adequately Address Potential Harms
to Consumers and Promote Industry Standards
Manufacturers or distributors of genetic testing products may be subject
to several kinds of liability, including breach of express or implied
warranty, negligence, and product liability. Product liability includes
liability for manufacturing defects, design defects, and defects in warnings
or instructions.271 These forms of liability provide compensation to injured
consumers and a measure of deterrence intended to force manufacturers of
at-home genetic tests to improve their products rather than suffer the
consequences of large-scale lawsuits negligence and product liability
lawsuits.272
c. Promoting Consumer Rights Through Greater Access to Genetic Tests
Concerns about consumers having access to their genetic information are
in line with the historical concerns of biomedical ethicists who argue that
individuals should not be coerced into specific medical choices for
autonomy and privacy reasons.273 The goal of this approach is to free the
patient “from both controlling interference by others and from limitations,
such as inadequate understanding, that prevent meaningful choice.”274
268. See
21
C.F.R
§
808.1(d)
(2007),
available
at
http://a257.g.akamaitech.net/7/257/2422/26mar20071500/edocket.access.gpo.gov/cfr_2007/a
prqtr/pdf/21cfr808.1.pdf (laying out the procedures for claiming an exemption from state and
local liability by means of federal preemption under the statute); H.R. Rep. No. 853, at 45
(1976) (explaining that, if manufacturers comply with FDA requirements and do not commit
fraud, state law claims generally are preempted).
269. See SACGHS Draft Report, supra note 177, at 113–14.
270. See, e.g., Wadman supra note 215; Malinowski & Blatt, supra note 109.
271. See generally Restatement (Third) of Torts: Product Liability § 2 (1998).
272. See John J. Kircher & Christine M. Wiseman, Punitive Damages: Law and Practice
§ 6.07 (2d ed. 2000); Mark P. Robinson & Gerald H.B. Kane, Jr., Punitive Damages in
Products Liability Cases, 6 Pepp. L. Rev. 139, 140 (1979) (defending punitive damages in
civil product liability cases).
273. See Tom L. Beauchamp & James F. Childress, Principles of Biomedical Ethics 12–
13 (5th ed. 2001) (identifying a relationship between and the importance of patient autonomy
and privacy concerns).
274. Id. at 58.
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As such, the interest in preventing inadequate patient understanding from
inhibiting free choice goes to the tort liability frequently found in genetic
cases for wrongful birth and wrongful life actions. One of the earliest cases
recognizing this cause of action was Curlender v. Bio-Science Laboratories,
which involved misinterpreting a test screening for Tay-Sach’s disease that
resulted in the birth of a Tay-Sach’s afflicted infant.275 The California
court permitted the infant’s claim and awarded damages for pain and
suffering as well as special pecuniary losses due to the condition.276 The
damages in that case stemmed from the physician’s responsibility to
accurately interpret and convey the information contained in the genetic
tests. However the courts have not yet been faced with a case where a
layperson undertakes the task of understanding and interpreting similar
genetic test results on his or her own.
In the end, advocates for consumer freedom and less regulation appear
willing to let the burden fall on the consumer where there is room for error
or misunderstanding with regard to what the results of genetic tests mean
and what course of action may be appropriate for a specific test result. In
return, these advocates believe that existing guidelines coupled with the
threat of product liability suits will provide sufficient protection and an
incentive for industrywide improvements to direct-to-consumer genetic
tests. To impose additional layers of regulation or oversight would result in
the loss or delay of increased access to genetic information for the public.
2. Evaluation of Possible Effects of Less Regulation
on Direct-to-Consumer Genetic Tests
The arguments for less regulation and more consumer access to direct-toconsumer tests put a premium on the ability of consumers to exercise their
right to make choices about appropriate genetic diagnostic and screening
tests.277 In spite of the low clinical utility of the tests, they argue that even
the most experimental genetic tests may offer benefits to some patients.278
Benefits include clarification of risk status, more accurate diagnosis of
275. Curlender v. Bio-Science Labs., 165 Cal. Rptr. 477, 488–90 (Ct. App. 1980). But
see Becker v. Schwartz, 386 N.E.2d 807, 813–14 (N.Y. 1978) (dismissing a wrongful life
claim based on the court’s inability to value nonlife versus handicapped life).
276. Curlender, 165 Cal. Rptr. at 488–90. Curlender highlights another potential
problem with relying on tort liability and allowing increased test usage, stating that there was
no reason why a suit could not be brought against parents who proceeded with a pregnancy
when they knew the fetus had a genetic defect. Id.; see Lois Shepherd, Sophie’s Choices:
Medical and Legal Responses to Suffering, 72 Notre Dame L. Rev. 103, 107–15 (1996).
277. See Andrews, supra note 18, at 27–29 (describing the fundamental rights model as
one approach to genetic testing, which arises out of a patient’s rights to make choices
concerning medical care); Kuklin, supra note 149, at 540–49 (discussing the need for
accurate information about genetic tests and their misinterpretation in the context of tort
liability under the informed consent doctrine). But see Abdulaziz v. City of Philadelphia,
No. 00-5672, 2001 U.S. Dist. Lexis 10156 (E.D. Pa. June 26, 2001) (expressing the minority
view that informed consent requirements only apply to surgical procedures).
278. Olufunmilayo I. Olopade, Editorial, Genetics in Clinical Cancer Care—The Future
Is Now, 335 New Eng. J. Med. 1455, 1455 (1996).
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symptomatic individuals, detection of carrier status, and guidance for
selecting the most prudent course of surveillance treatment.279
Additionally, the tests’ utility will improve as medical science begins to
overcome obstacles to using the information to predict how and when
genetic disorders will manifest from mere genetic mutations and as research
reveals more therapies for currently untreatable genetic conditions.280 In
fact, regulatory critics claim that the more patient samples are accumulated
through the use of these tests, the greater the financial incentives will be to
develop more genetic tests and the more rapidly gene therapies will be
developed.281 This hope is echoed in the support for more access to genetic
testing among interest groups working for increased attention for those with
genetic disorders and the need for additional research and funding for
prevention and cures.282 These groups say that overregulating the industry
may have the opposite effect and chill interest in providing easy access to
accurate genetic information.283
a. Increased Regulation: Creating Burdens That Exceed
the Benefits of Direct Access to Genetic Tests
Proponents of a less regulated approach argue that there is only a limited
benefit to adding requirements such as that consumers be afforded
additional genetic counseling or be restricted to tests only on the basis of
physician recommendation. Some cite the questionable propriety of genetic
counseling’s attempt to act as a neutral arbiter of predictive genetic
information.284 They point out that such counseling may never be neutral
even though the genetic community subscribes to an ethic of neutrality in
presenting choices to consumers.285 The idea of neutrality in genetic
counseling is further complicated by the need for medical professionals to
weigh the often conflicting requirements of professional and legal duties.
This problem is summed up as follows:
When an inheritable defective genetic trait is discovered, some counselees
may not wish to warn other family members about the potential risk to
those family members. This puts the counselor in a precarious position.
If the counselor takes it upon himself to warn relatives, he faces a possible
279. Id. (“It is no longer unusual for women with newly diagnosed breast cancer to seek
genetic testing before choosing between mastectomy and lumpectomy combined with
radiation therapy.”).
280. See Richard Saltus, Breast Cancer Testing: Do You Want to Know?, Boston Globe,
Mar. 11, 1996, at 25.
281. See Malinowski & Blatt, supra note 109, at 1217.
282. Fukuyama, supra note 49, at 215 (identifying disability rights groups as supporters
of increased access to genetic information that might be limited under some regulation).
283. See Pear, supra note 221 (quoting the president of the American Clinical Laboratory
Association as saying that overly stringent regulations would “stifle innovation”).
284. See Davis, supra note 15, at 20 (describing the possible counseling perspectives
available to a genetic counselor attempting to maintain a values-neutral approach when faced
with a couple wishing to ensure their children will carry a gene that causes deafness).
285. Id.
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lawsuit from the counselee based on a violation of privacy. However, if
the counselor does not warn a relative, he might be sued by the relative
based on the failure to prevent the unnecessary birth of a genetically
defective child. The quick answer is that since the counselee has no duty
to inform relatives, the counselor has no such duty and no business to
warn the relatives. The commentators are split.286
Legislation to address direct-to-consumer genetic testing is also criticized
as burdening consumers more than the tests.287 Opponents of legislation
specific to genetic testing point out that many preexisting routine diagnostic
tests reveal characteristics, such as blood cholesterol levels, that are
genetically based or influenced.288 As a result, statutes targeted solely at
consumer access to predictive genetic testing may impose unnecessary
limitations on medical practice and ongoing research.289
b. Compensation for Harms Done: Providing an Effective Alternative to
Increased Regulation for Both Consumers and Producers of Genetic Tests
Other industry voices argue that increased regulations do not always
increase the accuracy of diagnostic tests.290 As a result, it would be better
merely to compensate individuals for harm actually done than to undertake
regulations that, in past experience, do not achieve the desired improvement
in results.291 The argument is that the tests themselves carry few medical
risks, and the real risk comes from individual decisions based on the test
results, which can result in harm.292
However, in genetic testing tort cases, there remains the problem that the
element of causation will undoubtedly be difficult to prove in many
instances. Harm is particularly difficult to prove because the tests are
probabilistic about future health conditions, leaving consumers to establish
proximate cause for harms that result from subsequently adopted preventive
or prophylactic measures.293 For example, in one case a consumer
submitted material to genetic testing company OncorMed and was told she
had a mutation indicating a high risk of developing breast and ovarian
cancer.294 Based on this information, she had her ovaries surgically
286. Carolyn Lee Brown, Editorial Note, Genetic Malpractice: Avoiding Liability, 54 U.
Cin. L. Rev. 857, 877–78 (1986); see also Alexander Morgan Capron, Tort Liability in
Genetic Counseling, 79 Colum. L. Rev. 618, 677 (1979) (addressing the ethical and
professional norms in genetic counseling and identifying three potential problem areas in
applying tort liability to the new field of genetic counseling).
287. See Pear, supra note 221 (describing industry opposition to the regulation of genetic
tests based on the small risk relative to the benefits offered to consumers).
288. Malinowski, supra note 200, at 28.
289. Id. at 28–29.
290. James O. Westgard et al., Final Rule vs Final Word on Quality (2004),
http://www.westgard.com/essay62.htm.
291. See Ossorio, supra note 89, at 243.
292. Id.
293. Id.
294. See Underwood, supra note 167, at 62.
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removed and was consulting with a doctor about undergoing a double
mastectomy when it was discovered that OncorMed misreported the test
result.295
Not all industry interests agree on this point either, with some claiming
that relying on litigation as an enforcement mechanism also risks a chilling
effect on the industry. For example, one argument against wrongful life
suits focuses on the fact that the mere existence of this cause of action
encourages litigation and discourages genetic testing advances by making
work in this area cost prohibitive.296
c. Decreased Regulation: Offering the Industry Opportunities
to Explore More Effective Self-regulatory Measures
Finally, in promoting the idea of self-regulation, industry insiders find
that maintaining the status quo of nonregulation may offer some significant
public health benefits.297 This is because it allows the industry to address
the ethical issues associated with commercial technologies in ways that, it is
argued, are more effective than what could be achieved by governmentmandated regulation.298 As evidence for this, they point to the fact that
even a decade ago several multinational pharmaceutical companies funded
ethics programs centered on these issues, and many other biotechnology
companies have since hired ethicists to advise them in the development of
consumer products and services.299
Whether the ultimate effect of a lesser degree of regulation is beneficial
or detrimental appears to turn on one’s view of the consumers themselves.
Proponents of less regulation believe the result will be to assist consumers
in understanding their genetic predisposition (or lack thereof) to specific
conditions and allow them more direct access to health information with
which they can make choices for themselves. At the same time, the market
created for this information will drive improvements to the tests and
increased development across the industry. These effects are the opposite
of those posited by proponents of increased regulation of the tests under the
rationale of providing greater consumer protection from potentially
misleading information.
While both viewpoints provide persuasive
arguments, neither is a wholly adequate solution to the regulatory gap that
exists today.
295. Id.
296. Kevin R. Costello, The Limitations of Wrongful Life Claims and Genetic Diagnosis,
L.A. Lawyer, Apr. 2007, at 14, 16 (citing preimplantation genetic diagnosis of embryos as an
“essential technology” for “improving the quality of life” of children by ensuring that they
are born without genetic defects and arguing that permitting wrongful life suits will prevent
such diagnoses from becoming widespread).
297. See generally Malinowski & Blatt, supra note 109, at 1280.
298. Id.
299. Id. at 1280–81.
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III. A PROPOSAL FOR APPROPRIATE REGULATION OF
DIRECT-TO-CONSUMER GENETIC TESTING
Part III of this Note concludes that the appropriate level of regulation in
direct-to-consumer genetic testing involves bringing the validity of the tests
firmly under the FDA regulations to ensure that consumers receive reliable
results from tests marketed for both predictive and diagnostic purposes,
including complete genotype library services. However, at its heart the
argument about genetic testing weighs more heavily on the side of
consumer access to information, and so the direct-to-consumer tests should
not be heavily regulated except as state tort and product liability law
demands.
A. Extreme Regulatory Solutions Fail Consumers by Providing Either
Excessive or Inadequate Protections
Prohibiting all direct commercial sales of genetic tests to the public is not
a practical solution. There is consumer demand for direct genetic testing,
so, at best, this would drive such businesses to countries (or states) where
there are no such prohibitions and still allow the tests to be sold over the
Internet.300 A complete ban would thus be a poor solution both because it
forces consumers to do business with companies of unknown quality and
decreases the options for regulating such tests.
Likewise, relying solely on tort liability as an incentive mechanism is
inadequate for two reasons. First, many of these companies are newly
created and have few assets with which to compensate consumers, and any
possible recovery would be disproportionately low.301 Second, consumers
may have an insurmountable barrier in building cases where it is difficult to
prove how errors occurred, and test errors may not come to light for months
or even years.302
B. Regulation of the Accuracy and Validity of Tests Can Be Accomplished
Under the Existing Regulatory Framework
Increased regulation of test manufacturing and accuracy are essential
components of the regulatory patchwork needed to govern consumer
genetic testing. Regulations should be made explicit in terms of the
regulating authority and the requirements for accuracy and clinical validity
of at-home genetic tests.303 The primary form of regulation should involve
the increased oversight and enforcement of joint FDA and CLIA
regulations for genetic tests and laboratories that process those tests sold
directly to consumers. This mandate fits squarely within the existing
regulatory framework by focusing not on how the genetic tests or their
300.
301.
302.
303.
See supra note 108–20 and accompanying text.
See Harmon, supra note 45; Pollack, supra note 5.
See supra notes 292–95 and accompanying text.
See supra notes 233–35 and accompanying text.
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results reach the consumer but on the protocols, personnel, and standards of
the processing of those tests.304 As such, it interferes little with a
consumer’s right to access personal health information while providing
greater assurance that the actual results of the tests are accurate and provide
adequate information to consumers faced with medical decisions.305
Bringing the tests under the umbrella of the FDA and CLIA requirements
can be done by permitting a broad interpretation of the agencies’ mandates
to regulate the facilities associated with all diagnostic tests related to
consumer-patient health.306 Arguably, all genetic tests, including complete
genotype library services, relate to consumers’ health-related decisionmaking processes—even if the consumer initially requests such tests only
out of curiosity or for nondiagnostic purposes—because the information
obtained can be directly correlated to potential health problems.307 The
prime example of this is the option for consumers using companies such as
23andMe where the genetic information is compiled once, but access to it is
provided on an ongoing basis so the results can be continuously matched
against whatever new genetic findings come out.308
C. FDA Approval Coupled with FTC Enforcement Can Provide Both
Consumer Protection and Industry Incentives
FDA device regulation is not necessary as a mandatory requirement for
direct-to-consumer genetic testing. Unlike classical medical drugs and
devices, the information contained in one’s genome is not an inherently
dangerous substance that must be carefully screened because of the risks
associated with its use.309 However, that is not to say that the FDA should
not play a role if companies are interested in the voluntary use of the
approval process.
Under an opt-in system of FDA device approval for direct-to-consumer
genetic tests, manufacturers would have the option of submitting their test
through the existing approval process. For companies that consent to
working with the FDA, the existing incentive is to insulate the product from
liability in state courts.310 Similarly, legislators interested in promoting
greater voluntary use of the device approval process could offer legislation
to limit the ability of states to exclude direct-to-consumer genetic tests from
being sold within the state.311 In making the tests federally approved for
use anywhere in the United States and preempting state-level suits, the
304. See supra Part I.B.2–3.
305. See supra notes 249–53 and accompanying text.
306. See supra notes 233–35 and accompanying text.
307. See generally supra Part I.A.1 (describing the unique qualities of genetic tests that
make genetic information predictive of future diagnoses of diseases or conditions regardless
of the original reason for the genome mapping).
308. See Harmon, supra note 45.
309. See supra notes 9–13 and accompanying text (comparing genetic tests to standard
diagnostic tests).
310. See supra notes 50–60 and accompanying text.
311. See supra notes 205–06 and accompanying text.
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legislature would create an additional incentive for manufacturers to
participate in the approval process, particularly as more tests are developed,
and in turn create further paths for fast-track approvals based on preexisting
consumer genetic tests.312 At the same time, states could continue to place
some limited restrictions on direct-to-consumer tests, such as requiring
consumers to be provided with referrals for genetic counseling or reminded
to have physicians interpret the test results.313 Such restrictions would
function on a state-by-state basis, but where the tests had obtained FDA
approval the state would not be permitted to negate the direct-consumer link
(e.g., limiting direct-to-consumer test sales to doctors or requiring
companies to report results only through a state-licensed physician).314
In contrast, companies that choose not to voluntarily enter into the FDA
device approval process would continue to be subject to state-imposed bans
on direct-to-consumer tests.315 As discussed earlier in this section, it is
unlikely that such complete bans would be particularly effective given the
options for online ordering and delivery of tests via standard parcel post
carriers. In addition, the unapproved tests could be penalized further by
encouraging stricter enforcement of labeling by the FTC.316 This would
address the problem of false or misleading advertising of the type identified
by the Government Accountability Office report on nutrigenomics tests,
which were advertised directly to consumers but offered little or no valid
scientific or medical purpose.317
Non-FDA-approved genetic tests sold directly to consumers could also
be required to carry disclaimers comparable to those carried on dietary
supplements. Where the supplements are not FDA approved, the label
includes a statement below the benefit claims that indicates that the
statements have not been evaluated by the FDA and the product is not
intended to “diagnose, treat, cure, or prevent any disease.”318 Such a
disclaimer alerts the consumer that the product is not FDA approved and
presumably would help consumers choose whether or not to purchase tests
from companies that have not made the effort to go through the review
process. Like dietary supplements, the disclaimer can hardly be expected to
eliminate the market for such direct-to-consumer genetic tests but does have
the benefit of creating a truth-in-advertising check for consumers.319
312. See supra Part II.B.2.
313. See, e.g., Genetics & Pub. Policy Ctr., supra note 205.
314. See id.
315. See id.
316. See supra notes 186–87 and accompanying text.
317. See supra note 120 and accompanying text.
318. FDA, Labeling of Dietary Supplements FAQ, http://www.cfsan.fda.gov/~dms/dslabl.html (last visited Feb. 19, 2008).
319. See supra notes 186–87 and accompanying text.
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D. An Additional Role Remains for Agencies and Professional Groups in
Providing Consumer Education About Genetic Testing
None of the proposed steps will directly address the ongoing problem of
inadequate understanding of genetics by consumers and physicians or the
difficulties in communicating the precise meaning of test results to
consumers. Most likely this will continue to be an item of concern to
groups like SACGHS that have identified improved genetic awareness as a
priority. Over time, the understanding gap will close slightly due to
medicine’s improved ability to interpret the probabilistic connections
between genetic information and genetic conditions.320 Additionally,
consumers will likely become more comfortable with genetic testing as it
increases in availability and becomes more accepted as a part of routine
health care with appropriate safeguards for privacy and against
discrimination.
To improve this process, the FDA should consider issuing advisories on
language that can be used in explanations of the results of genetic tests
offered directly to consumers. For tests that undergo FDA approval, this is
already one way to ensure that manufacturers are limited in the liability
borne for reporting results directly to consumers.321 Unapproved tests may
choose to model explanations on the FDA-approved language in the hope of
creating a rebuttable presumption in potential tort actions that the test
results were adequately communicated to consumers. However, even this
step is unlikely to provide the same level of protection from liability
afforded to FDA-approved tests.322 Such advisories might also be
undertaken by the FTC or developed in conjunction with groups such as
SACGHS, the AMA, or genetics policy groups.323
Finally, professional and policy groups should continue to take an active
role in promoting consumer and physician awareness of developments in
genetic testing. These groups play an important role, mediating between
government and industry.324 On the one hand, they remain largely
unattached to specific political administrations and free to advocate a broad
mix of constituencies from consumers and physicians to disability rights
advocates and research scientists.325 On the other hand, they lack some of
the product-based loyalties of the biotechnology sector that may become
entangled in a conflict between consumer good and profits.326 As such,
these professional and policy groups are uniquely situated to continue
reviewing and commenting on the development of genetic testing and to act
as watchdogs over consumer behavior stemming from direct-to-consumer
genetic tests and access to genetic information generally.
320.
321.
322.
323.
324.
325.
326.
See Nat’l Insts. of Health, supra note 28, at 2–3.
See supra notes 50–60 and accompanying text.
See supra notes 50–60 and accompanying text.
See supra notes 222–24 and accompanying text.
See supra notes 222–24 and accompanying text.
See supra notes 222–24 and accompanying text.
See supra notes 222–24 and accompanying text.
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CONCLUSION
Direct-to-consumer genetic tests represent a leap forward in consumers’
access to their personal medical history and health information. Unlike a
drug or device used in classical medical care, these tests are minimally
invasive with little or no risk in obtaining the samples needed for the test.327
Therefore, regulating them in precisely the same manner as an inherently
dangerous substance, such as a medication for a chronic condition or an
artificial assistive device such as a stent or pacemaker, is an excessive
burden given the risks involved. The information provided by the genetic
tests is only risky because of the choices that individuals make based on it
and the potential for consumer misinterpretation of it.328
To address the existing concerns about genetic testing and further
encourage innovation in this area, the regulatory scheme should be limited
to FDA and CLIA approval requirements for test materials and laboratories
carrying out the test processing for direct-to-consumer tests. The FDA
approval process for devices should be offered as a further incentive to
manufacturers by providing the added benefit of overcoming state-specific
bans on direct-to-consumer genetic tests.329 At the same time, states could
still require concessions on issues such as genetic counseling or physician
counseling to consumers purchasing the tests in those states.330 Direct-toconsumer tests that bypass the FDA approval process would continue to be
subject to state-specific bans in addition to being subject to state liability
laws. In addition, unapproved tests would undergo a higher level of
scrutiny by both the FDA and the FTC to ensure that those companies’
products carried the appropriate disclaimers noting that the products were
not scientifically or medically valid or necessary.331
Consumers could be made aware of the distinction between products that
were approved and unapproved through increased education by professional
and policy groups.332 Their understanding of the results received from
direct-to-consumer genetic tests would also be enhanced where the FDA, or
other public interest groups, was able to implement advisory language for
companies to use in providing test analysis directly to consumers.333 This
would allow for continuing improvement in consumer understanding of
genetics information as it becomes a more common part of individual health
and medical treatment plans.
The combination of laboratory regulation, dual tracks for genetic tests
based on voluntary FDA approval, and consumer advisories and education
provides a multipronged approach to addressing the most prominent
concerns about offering genetic tests directly to consumers. The existing
327.
328.
329.
330.
331.
332.
333.
See supra notes 22–25 and accompanying text.
See supra notes 143–49 and accompanying text.
See supra notes 205–06 and accompanying text.
See supra notes 205–06 and accompanying text.
See supra Part I.B.2.
See supra notes 222–24 and accompanying text.
See, e.g., supra note 318.
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lack of regulation must be addressed, but should not discourage further
innovation in genetic testing. At the same time, consumers should be
encouraged to take appropriate proactive steps to understand the role
genetics plays in their health and well-being. By using a minimalist but
layered approach to regulation, all of these goals may be achieved.